Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A606V
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LDLR

NM_000527.5:p.A606V

Associated Papers

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

Jiang L et al.

Scientific Reports, 2015

26608663 (PubMed )
Supplement: srep17272-s1.doc

[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].

Dai YF et al.

Yi Chuan = Hereditas, 2011

Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.

Mak YT et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 1998

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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."