Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W483G
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LDLR

NM_000527.5:p.W483G

Associated Papers

Independent Severe Cases of Heterozygous Familial Hypercholesterolemia Caused by the W483X and Novel W483G Mutations in the Low-Density Lipoprotein Receptor Gene That Were Clinically Diagnosed as Homozygous Cases.

Cheng S et al.

Genetic Testing and Molecular Biomarkers, 2019

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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."