Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G335C
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LDLR

NM_000527.5:p.G335C

Associated Papers

Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.

Hu YN et al.

Plos One, 2024

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Editorial: Genetics of familial hypercholesterolemia: New insight-Volume II.

Vuorio A et al.

Frontiers in Genetics, 2022

Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.

Hu H et al.

Frontiers in Genetics, 2021

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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."