Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A684S
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LDLR

NM_000527.5:p.A684S

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

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.

Leigh SE et al.

Annals of Human Genetics, 2008

Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.

Sozen M et al.

Atherosclerosis. Supplements, 2004

Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.

Guerin A et al.

Cmaj Open, 0

37607748 (PubMed )
Supplement: open-2022-0108-2-at.pdf
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