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

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Date: February 3, 2022
Authors:
Alexandre Costa Pereira, Amanda J Hooper, Annette Leon, Cinthia E Jannes, C Lisa Kurtz, Eric J Sijbrands, Hannah Wand, Heather Zimmermann, Jessica Chonis, Jian Wang, Joana R Chora, Joshua W Knowles, Liam R Brunham, Mafalda Bourbon, Maggie Williams, Margaret Chen, Mark Trinder, Michael A Iacocca, Michal Kramarek, Premysl Soucek, Robert A Hegele, Sarah E. Leigh, Serra Kim, Steve E Humphries, Tami Johnston
Journal: Genetics in Medicine
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