Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G636V
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LDLR

NM_000527.5:p.G636V

Associated Papers

Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Oommen D et al.

Frontiers in Genetics, 2020

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.

Wang H et al.

Plos One, 2014

[Screening for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia Chinese].

Pang QF et al.

Zhonghua Nei Ke Za Zhi, 2004

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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."