Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C173*
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LDLR

NM_000527.5:p.C173*

Associated Papers

The UK10K project identifies rare variants in health and disease.

Walter K et al.

Nature, 2015

26367797 (PubMed )
Supplement: 41586_2015_BFnature14962_MOESM15_ESM.xlsx › 15

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

Wang J 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."