Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C184_R185Fs
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LDLR

NM_000527.5:p.C184_R185Fs

Associated Papers

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L et al.

Scientific Reports, 2015

Identification of LDLR mutations in two Chinese pedigrees with familial hypercholesterolemia.

Yao RE et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

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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."