Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C696W
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LDLR

NM_000527.5:p.C696W

Associated Papers

What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

Humphries SE et al.

Current Opinion in Lipidology, 2008

Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations.

Salazar LA et al.

Human Mutation, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."