Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G805A
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LDLR

NM_000527.5:p.G805A

Associated Papers

Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

Strøm TB et al.

Febs Open Bio, 2014

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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."