Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
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…·Mafalda Bourbon
The paper provides consensus guidelines for classifying LDLR variants in Familial Hypercholesterolemia using modified ACMG/AMP criteria.
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