Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V806delFs
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LDLR

NM_000527.5:p.V806delFs

Associated Papers

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.

Tada H et al.

Frontiers in Genetics, 2022

35480308 (PubMed )
Supplement: Presentation1.pdf

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M et al.

Human Mutation, 2010

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