The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome
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Citations
Cites
Frameshift Mutations and the Genetic Code
Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., & Inouye, M. (1966) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.1966.031.01.014 · Cited by 1,400 · cited 1×
“Mononucleotide tracts are thought to be hypermutable due to slippage of the DNA polymerase during replication (Streisinger et al. 1966), which results in frameshift mutations leading to protein truncation.”
BackgroundNonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
Maquat, L. E. (2004) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1310 · Cited by 1,214
Cited by
Martina, J. A., Diab, H. I., Lishu, L., Jeong-A, L., Patange, S., Raben, N., & Puertollano, R. (2014) · Science Signaling · doi:10.1126/scisignal.2004754 · Cited by 677
TFEB and TFE3: Linking Lysosomes to Cellular Adaptation to Stress
Raben, N., & Puertollano, R. (2016) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-111315-125407 · Cited by 437
Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202009 · Cited by 241
Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer
Nookala, R. K., Langemeyer, L., Pacitto, A., Ochoa-Montaño, B., Donaldson, J. C., Blaszczyk, B. K., Chirgadze, D. Y., Barr, F. A., Bazan, J. F., & Blundell, T. L. (2012) · Open Biology · doi:10.1098/rsob.120071 · Cited by 106
Metadata
- Authors
- Schmidt, L. S., Nickerson, M. L., Warren, M. B., Glenn, G. M., Toro, J. R., Merino, M. J., Turner, M. L., Choyke, P. L., Sharma, N., Peterson, J., Morrison, P., Maher, E. R., Walther, M. M., Zbar, B., & Linehan, W. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2005-06
- Volume
- 76
- Issue
- 6
- Pages
- 1023-1033
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1981403280
- Cited by
- 405
- References
- 2
- FWCI
- 10.58
- Type
- journal article
- Language
- en
- Open access
- bronze
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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.
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Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
