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

Specialty Areas:
Date: July 5, 2023
Authors:
Joana R 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 Costa Pereira, Cinthia E Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Premysl Soucek, Michal Kramarek, Sarah E. Leigh, Alain Carrié, Eric J Sijbrands, Robert A Hegele, Tomáš Freiberger, Joshua W Knowles, Mafalda Bourbon
Journal: Genetics in Medicine
Journal Volume: 24