Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W620*
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LDLR

NM_000527.5:p.W620*

Associated Papers

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

Genetic basis of hypercholesterolemia in adults.

Saadatagah S et al.

Npj Genomic Medicine, 2021

33854068 (PubMed )
Supplement: 41525_2021_190_MOESM1_ESM.pdf

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

Fan LL et al.

Applied Biochemistry and Biotechnology, 2015

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M et al.

Human Mutation, 2010

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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."