Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
Open accessAbstract
Idiopathic hypogonadotropic hypogonadism (IHH) due to defects of gonadotropin-releasing hormone (GnRH) secretion and/or action is a developmental disorder of sexual maturation. To date, several single-gene defects have been implicated in the pathogenesis of IHH. However, significant inter- and intrafamilial variability and apparent incomplete penetrance in familial cases of IHH are difficult to reconcile with the model of a single-gene defect. We therefore hypothesized that mutations at different IHH loci interact in some families to modify their phenotypes. To address this issue, we studied 2 families, one with Kallmann syndrome (IHH and anosmia) and another with normosmic IHH, in which a single-gene defect had been identified: a heterozygous FGF receptor 1 (FGFR1) mutation in pedigree 1 and a compound heterozygous gonadotropin-releasing hormone receptor (GNRHR) mutation in pedigree 2, both of which varied markedly in expressivity within and across families. Further candidate gene screening revealed a second heterozygous deletion in the nasal embryonic LHRH factor (NELF) gene in pedigree 1 and an additional heterozygous FGFR1 mutation in pedigree 2 that accounted for the considerable phenotypic variability. Therefore, 2 different gene defects can synergize to produce a more severe phenotype in IHH families than either alone. This genetic model could account for some phenotypic heterogeneity seen in GnRH deficiency.
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The dimorphic distribution with incomplete penetrance suggests that changes may occur in more than one gene and/or that sex-associated modifying factors may contribute to the phenotype.
“This pattern suggests that changes may occur in more than one gene and/or that sex-associated modifying factors may contribute to the phenotype.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [6]
In some cases, the severity of hypogonadism and the presence of associated phenotypes in a pedigree present in a dimorphic distribution with incomplete penetrance.
“In some cases, the severity of hypogonadism and the presence of associated phenotypes in a pedigree present in a dimorphic distribution with incomplete penetrance.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [6]
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The <i>GPR54</i> Gene as a Regulator of Puberty
Seminara, S. B., Messager, S., Chatzidaki, E. E., Thresher, R. R., Acierno, J. S., Shagoury, J. K., Bo-Abbas, Y., Kuohung, W., Schwinof, K. M., Hendrick, A. G., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa035322 · Cited by 2,557 · see citing works
Self-citationHypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
de Roux, N., Genin, E., Carel, J.-C., Matsuda, F., Chaussain, J.-L., & Milgrom, E. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1834399100 · Cited by 2,431 · see citing works
Cellular signaling by fibroblast growth factor receptors
Eswarakumar, V. P., Lax, I., & Schlessinger, J. (2005) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.01.001 · Cited by 1,923 · see citing works
Dynamics of gonadotropin-releasing hormone release during a pulse.
Moenter, S. M., Brand, R. M., MIDGLEY, A. R., & Karsch, F. J. (1992) · Endocrinology · doi:10.1210/endo.130.1.1727719 · Cited by 1,257 · see citing works
An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination
Meyers, E., Lewandoski, M., & Martin, G. (1998) · Nature Genetics · doi:10.1038/ng0298-136 · Cited by 1,126 · see citing works
Recommendations for a nomenclature system for human gene mutations
Antonarakis, S. E., & Nomenclature Working Group (1998) · Human Mutation · doi:10.1002/(sici)1098-1004(1998)11:1 · Cited by 934 · see citing works
Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., et al. (1991) · Nature · doi:10.1038/353529a0 · Cited by 846 · see citing works
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
Dodé, C., Levilliers, J., Dupont, J., Paepe, A. D., Dû, N. L., Soussi-Yanicostas, N., Coimbra, R., Delmaghani, S., Compain-Nouaille, S., Baverel, F., et al. (2003) · Nature Genetics · doi:10.1038/ng1122 · Cited by 822 · see citing works
Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 774 · see citing works
Legouis, R., Hardelin, J.-P., Levilliers, J., Claverie, J.-M., Compain, S., Wunderle, V., Millasseau, P., Le Paslier, D., Cohen, D., & Caterina, D. (1991) · Cell · doi:10.1016/0092-8674(91)90193-3 · Cited by 678 · see citing works
de Roux, N., Young, J., Misrahi, M., Genet, R., Chanson, P., Schaison, G., & Milgrom, E. (1997) · New England Journal of Medicine · doi:10.1056/nejm199711273372205 · Cited by 518 · see citing works
Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2
Dodé, C., Teixeira, L., Levilliers, J., Fouveaut, C., Bouchard, P., Kottler, M.-L., Lespinasse, J., Lienhardt-Roussie, A., Mathieu, M., Moerman, A., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020175 · Cited by 457 · see citing works
Mohammadi, M., Dikic, I., Sorokin, A., Burgess, W. H., Jaye, M., & Schlessinger, J. (1996) · Molecular and Cellular Biology · doi:10.1128/mcb.16.3.977 · Cited by 389 · see citing works
Self-citationStructure of the FGF Receptor Tyrosine Kinase Domain Reveals a Novel Autoinhibitory Mechanism
Mohammadi, M., Schlessinger, J., & Hubbard, S. R. (1996) · Cell · doi:10.1016/s0092-8674(00)80131-2 · Cited by 371 · see citing works
Self-citationBeyond Mendel: an evolving view of human genetic disease transmission
Badano, J. L., & Katsanis, N. (2002) · Nature Reviews Genetics · doi:10.1038/nrg910 · Cited by 366 · see citing works
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT
Carlton, V. E. H., Harris, B. Z., Puffenberger, E. G., Batta, A. K., Knisely, A. S., Robinson, D. L., Strauss, K. A., Shneider, B. L., Lim, W. A., Salen, G., et al. (2003) · Nature Genetics · doi:10.1038/ng1147 · Cited by 327 · see citing works
Shimura, H., Hattori, N., Kubo, S., Yoshikawa, M., Kitada, T., Matsumine, H., Asakawa, S., Minoshima, S., Yamamura, Y., Shimizu, N., et al. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199905)45:5 · Cited by 282 · see citing works
Genetics of Hirschsprung disease
Parisi, M. A., & Kapur, R. P. (2000) · Current Opinion in Pediatrics · doi:10.1097/00008480-200012000-00017 · Cited by 260 · see citing works
Roghani, M., Mansukhani, A., Dell’Era, P., Bellosta, P., Basilico, C., Rifkin, D. B., & Moscatelli, D. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)41730-3 · Cited by 259 · see citing works
Beranova, M., Oliveira, L. M. B., Bédécarrats, G. Y., Schipani, E., Vallejo, M., Ammini, A. C., Quintos, J. B., Hall, J. E., Martin, K. A., Hayes, F. J., et al. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.4.7395 · Cited by 251 · see citing works
Self-citationPitteloud, N., Acierno, J. S., Meysing, A., Eliseenkova, A. V., Ma, J., Ibrahimi, O. A., Metzger, D. L., Hayes, F. J., Dwyer, A. A., Hughes, V. A., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0600962103 · Cited by 242 · see citing works
Self-citationSato, N. S., Katsumata, N., Kagami, M., Hasegawa, T., Hori, N., KAWAKITA, S., Minowada, S., Shimotsuka, A., Shishiba, Y., Yokozawa, M., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-030476 · Cited by 216 · see citing works
FGF signaling through FGFR1 is required for olfactory bulb morphogenesis
Hébert, J. M., Lin, M., Partanen, J. M., Rossant, J., & McConnell, S. K. (2003) · Development · doi:10.1242/dev.00334 · Cited by 213 · see citing works
Oliveira, L. M. B., Seminara, S. B., Beranova, M., Hayes, F. J., Valkenburgh, S. B., Schipani, E., Costa, E. M. F., Latronico, A. C., Crowley, W. F., & Vallejo, M. (2001) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.86.4.7420 · Cited by 210 · see citing works
Self-citationStructural basis by which alternative splicing modulates the organizer activity of FGF8 in the brainPreprint
Olsen, S. K., Li, J. Y. H., Bromleigh, C., Eliseenkova, A. V., Ibrahimi, O. A., Lao, Z., Zhang, F., Linhardt, R. J., Joyner, A. L., & Mohammadi, M. (2005) · Genes & Development · doi:10.1101/gad.1365406 · Cited by 204 · see citing works
Self-citationHeterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome
Hardelin, J.-P., Levilliers, J., Blanchard, S., Carel, J.-C., Leutenegger, M., Pinard-Bertelletto, J.-P., Bouloux, P., & Petit, C. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.4.373 · Cited by 203 · see citing works
Self-citationPitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, F., Seminara, S., et al. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.04.021 · Cited by 198 · see citing works
Self-citationBarker, S. C., Kassel, D. B., Weigl, D., Huang, X., Luther, M., & Knight, W. B. (1995) · Biochemistry · doi:10.1021/bi00045a027 · Cited by 190 · see citing works
Hormone substitution in male hypogonadism
Zitzmann, M., & Nieschlag, E. (2000) · Molecular and Cellular Endocrinology · doi:10.1016/s0303-7207(99)00227-0 · Cited by 166 · see citing works
Kawauchi, S., Shou, J., Santos, R., Hébert, J. M., McConnell, S. K., Mason, I. J., & Calof, A. L. (2005) · Development · doi:10.1242/dev.02143 · Cited by 163 · see citing works
Pitteloud, N., Acierno, J. S., Meysing, A. U., Dwyer, A. A., Hayes, F. J., & Crowley, W. F. (2005) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-1361 · Cited by 160 · see citing works
Self-citationGonzález-Martı́nez, D., Kim, S., Hu, Y., Guimond, S. E., Schofield, J. D., Winyard, P. J. D., Vannelli, G. B., Turnbull, J. E., & Bouloux, P.-M. G. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.3400-04.2004 · Cited by 153 · see citing works
Self-citationKallmann syndrome: 14 novel mutations in<i>KAL1</i>and<i>FGFR1</i>(<i>KAL2</i>): MUTATIONS IN BRIEF
Albuisson, J., Pêcheux, C., Carel, J.-C., Lacombe, D., Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., Matthijs, G., Wasniewska, M., et al. (2005) · Human Mutation · doi:10.1002/humu.9298 · Cited by 146 · see citing works
Digenic inheritance of severe insulin resistance in a human pedigree
Savage, D. B., Agostini, M., Barroso, I., Gurnell, M., Luan, J., Meirhaeghe, A., Harding, A.-H., Ihrke, G., Rajanayagam, O., Soos, M. A., et al. (2002) · Nature Genetics · doi:10.1038/ng926 · Cited by 144 · see citing works
de Roux, N., Young, J., Brailly‐Tabard, S., Misrahi, M., Milgröm, E., & SCHAISON, G. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.2.5449 · Cited by 144 · see citing works
Miura, K., Acierno, J. S., & Seminara, S. B. (2004) · Journal of Human Genetics · doi:10.1007/s10038-004-0137-4 · Cited by 140 · see citing works
Self-citationKramer, P. R., & Wray, S. (2000) · Genes & Development · doi:10.1101/gad.14.14.1824 · Cited by 139 · see citing works
Trarbach, E. B., Costa, E. M. F., Versiani, B. R., de Castro, M., Baptista, M. T. M., Garmes, H. M., Mendonca, B. B., & Latronico, A. C. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2005-2793 · Cited by 107 · see citing works
Seminara, S. B., Beranova, M., Oliveira, L. M. B., Martin, K. A., Crowley, W. F., & Hall, J. E. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.2.6357 · Cited by 106 · see citing works
Self-citationTsai, P., Moenter, S. M., Postigo, H. R., Majdoubi, M. E., Pak, T. R., Gill, J. C., Paruthiyil, S., Werner, S., & Weiner, R. I. (2004) · Molecular Endocrinology · doi:10.1210/me.2004-0330 · Cited by 103 · see citing works
Massin, N., Pécheux, C., Eloit, C., et al. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-021981 · Cited by 92 · see citing works
Beales, P. L., Katsanis, N., Lewis, R. A., Ansley, S. J., Elcioglu, N. H., Raza, J., Woods, M. O., Green, J. S., Parfrey, P. S., Davidson, W. S., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318794 · Cited by 86 · see citing works
Gill, J. C., Moenter, S. M., & Tsai, P.-S. (2004) · Endocrinology · doi:10.1210/en.2004-0214 · Cited by 81 · see citing works
Cell type and tissue distribution of the fibroblast growth factor receptor
Olwin, B. B., & Hauschka, S. D. (1989) · Journal of Cellular Biochemistry · doi:10.1002/jcb.240390410 · Cited by 77 · see citing works
Romanelli, R. G., Barni, T., Maggi, M., Luconi, M., Failli, P., Pezzatini, A., Pelo, E., Torricelli, F., Crescioli, C., Ferruzzi, P., et al. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m307955200 · Cited by 71 · see citing works
Neuroblast long-term cell cultures from human fetal olfactory epithelium respond to odors
Vannelli, G. B., Ensoli, F., Zonefrati, R., et al. (1995) · Journal of Neuroscience · doi:10.1523/jneurosci.15-06-04382.1995 · Cited by 70 · see citing works
Zénaty, D., Bretones, P., Lambe, C., et al. (2006) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2006.04.006 · Cited by 55 · see citing works
Newberry, E. P., Boudreaux, J. M., & Towler, D. A. (1996) · Molecular Endocrinology · doi:10.1210/mend.10.8.8843419 · Cited by 38 · see citing works
Molecular Mechanisms for Migration of Placodally Derived GnRH Neurons
Wray, S. (2002) · Chemical Senses · doi:10.1093/chemse/27.6.569 · Cited by 36 · see citing works
Cordonnier, M., Hanozet, V., Nechel, C. V., et al. (1990) · PubMed · Cited by 4 · see citing works
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Ornitz, D. M., & Itoh, N. (2015) · WIREs Developmental Biology · doi:10.1002/wdev.176 · Cited by 2,050 · see citing works
Boehm, U., Bouloux, P.-M., Dattani, M. T., de Roux, N., Dodé, C., Dunkel, L., Dwyer, A. A., Giacobini, P., Hardelin, J.-P., Juul, A., et al. (2015) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2015.112 · Cited by 874 · see citing works
Self-citationControl of puberty onset and fertility by gonadotropin-releasing hormone neurons
Herbison, A. E. (2016) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2016.70 · Cited by 515 · see citing works
Inactivating<i>KISS1</i>Mutation and Hypogonadotropic Hypogonadism
Topaloglu, A. K., Tello, J. A., Kotan, L. D., Ozbek, M. N., Yilmaz, M. B., Erdogan, S., Gurbuz, F., Temiz, F., Millar, R. P., & Yuksel, B. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1111184 · Cited by 467 · see citing works
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34538 · Cited by 397 · see citing works
Self-citationThe genetic and molecular basis of idiopathic hypogonadotropic hypogonadism
Bianco, S. D. C., & Kaiser, U. B. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.177 · Cited by 336 · see citing works
Kim, H.-G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.005 · Cited by 338 · see citing works
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Wilkie, A. O. M., Byren, J. C., Hurst, J. A., Jayamohan, J., Johnson, D., Knight, S. J. L., Lester, T., Richards, P. G., Twigg, S. R. F., & Wall, S. A. (2010) · Pediatrics · doi:10.1542/peds.2009-3491 · Cited by 297 · see citing works
Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.008 · Cited by 267 · see citing works
Self-citationPitteloud, N., Zhang, C., Pignatelli, D., Li, J.-D., Raivio, T., Cole, L. W., Plummer, L., Jacobson-Dickman, E. E., Mellon, P. L., Zhou, Q.-Y., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707173104 · Cited by 264 · see citing works
Self-citationA genetic basis for functional hypothalamic amenorrhea
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Self-citationCole, L. W., Sidis, Y., Zhang, C., Quinton, R., Plummer, L., Pignatelli, D., Hughes, V. A., Dwyer, A. A., Raivio, T., Hayes, F. J., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2654 · Cited by 208 · see citing works
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Self-citationGianetti, E., Hall, J. E., Au, M. G., Kaiser, U. B., Quinton, R., Stewart, J. A., Metzger, D. L., Pitteloud, N., Mericq, V., Merino, P. M., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-1264 · Cited by 53 · see citing works
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- Authors
- Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.-Z., Li, W.-P., Maccoll, G., Eliseenkova, A. V., Olsen, S. K., Ibrahimi, O. A., Hayes, F. J., Boepple, P., Hall, J. E., Bouloux, P., Mohammadi, M., & Crowley, W.
- Affiliations
- Harvard University (US)
- Royal Victoria Infirmary (GB)
- Newcastle University (GB)
- The Royal Free Hospital (GB)
- New York University (US)
- Corresponding author
- Pitteloud, Nelly
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2007-02-01
- Volume
- 117
- Issue
- 2
- Pages
- 457-463
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC1765517
- OpenAlex
- W2068053473
- Cited by
- 379
- References
- 50
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 9 · 2023: 8 · 2022: 9 · 2021: 21 · 2020: 19 · 2019: 21 · 2018: 26 · 2017: 18 · 2016: 23 · 2015: 23 · 2014: 24 · 2013: 16 · 2012: 21
- FWCI
- 33.89
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- National Institutes of Health
- National Institute of Dental and Craniofacial Research (DE13686, R01DE013686)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD15788, R01HD015788, HD028138, P30HD028138, P50HD028138, U54HD028138)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- idiopathic hypogonadotropic hypogonadism, Kallmann syndrome, anosmia, phenotypic variability, incomplete penetrance, compound heterozygosity, FGF receptor 1, FGFR1, GnRH receptor, GnRH deficiency, gene-gene interaction, sexual maturation
- MeSH terms
- Adult, Amino Acid Sequence, Base Sequence, DNA, Female, Genotype, Heterozygote, Humans, Hypogonadism, Gonadotropin-Releasing Hormone, Male, Models, Genetic, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Phenotype, Receptors, LHRH, Transcription Factors, Conserved Sequence, Sequence Deletion, Sequence Homology, Amino Acid, Kallmann Syndrome, Receptor, Fibroblast Growth Factor, Type 1, Fibroblast Growth Factor 8
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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