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