Varaico: Literature-Extracted Genetic Variants

Gene:GC
Variant:p.G20G
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GC

NM_000583.4:p.G20G

Associated Papers

Heterozygous familial hypercholesterolemia: a new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia.

Widhalm K et al.

Human Mutation, 1999

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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."