Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E58_S59insFs
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LDLR

NM_000527.5:p.E58_S59insFs

Associated Papers

Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

Chiou KR et al.

The American Journal of Cardiology, 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."