Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.T721I
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LDLR

NM_000527.5:p.T721I

Associated Papers

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

Humphries SE et al.

Current Opinion in Lipidology, 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

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

Nauck MS et al.

Human Mutation, 2001

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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."