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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Chora, Joana R., Iacocca, Michael A., Tichý, Lukáš, Wand, Hannah, Kurtz, C. Lisa, Zimmermann, Heather, Leon, Annette, Williams, Maggie, Humphries, Steve E., Hooper, Amanda J., Trinder, Mark, Brunham, Liam R., Costa Pereira, Alexandre, Jannes, Cinthia E., Chen, Margaret, Chonis, Jessica, Wang, Jian, Kim, Serra, Johnston, Tami, Soucek, Premysl, Kramarek, Michal, Leigh, Sarah E., Carrié, Alain, Sijbrands, Eric J., Hegele, Robert A., Freiberger, Tomáš, Knowles, Joshua W., Bourbon, Mafalda·2022·Genetics in Medicine
DOI 10.1016/j.gim.2021.09.012PMC PMC12558601

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Metadata

Authors
Chora, J. R., Iacocca, M. A., Tichý, L., Wand, H., Kurtz, C. L., Zimmermann, H., Leon, A., Williams, M., Humphries, S. E., Hooper, A. J., Trinder, M., Brunham, L. R., Costa Pereira, A., Jannes, C. E., Chen, M., Chonis, J., Wang, J., Kim, S., Johnston, T., Soucek, P., Kramarek, M., Leigh, S. E., Carrié, A., Sijbrands, E. J., Hegele, R. A., Freiberger, T., Knowles, J. W., & Bourbon, M.
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2022-02
Volume
24
Issue
2
Pages
293-306
ISSN
1098-3600
DOI
10.1016/j.gim.2021.09.012
PMC
PMC12558601
Cited by
163
References
4
Language
en
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CoChat. (2026). Citation check: The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. https://app.cochat.ai/papers/10.1016/j.gim.2021.09.012
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Chora, J. R., Iacocca, M. A., Tichý, L., Wand, H., Kurtz, C. L., Zimmermann, H., Leon, A., Williams, M., Humphries, S. E., Hooper, A. J., Trinder, M., Brunham, L. R., Costa Pereira, A., Jannes, C. E., Chen, M., Chonis, J., Wang, J., Kim, S., Johnston, T., . . . Bourbon, M. (2022). The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genetics in Medicine. https://doi.org/10.1016/j.gim.2021.09.012