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

Joana Rita Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre C. Pereira, Cinthia Elim Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Přemysl Souček, Michal Kramárek, S. E. A. Leigh, Alain Carrié, Eric J.G. Sijbrands, Robert A. Hegele, Tomáš Freiberger, Joshua W. Knowles, Mafalda Bourbon

2021Genetics in Medicine165 citationsDOIOpen Access PDF

Topics & Concepts

Familial hypercholesterolemiaMedical geneticsGenomicsMedicineComputational biologyPopulationGeneticsBioinformaticsBiologyGenomeGeneInternal medicineCholesterolEnvironmental healthGenomics and Rare DiseasesLipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification | Litcius