Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A459V
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LDLR

NM_000527.5:p.A459V

Associated Papers

Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.

He L et al.

Genes & Genomics, 2025

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

Jiang L et al.

Scientific Reports, 2015

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

Dai YF et al.

Yi Chuan = Hereditas, 2011

Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.

Jeenduang N et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."