Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E337*
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LDLR

NM_000527.5:p.E337*

Associated Papers

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

He L et al.

Genes & Genomics, 2025

Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.

Huang MN et al.

Lipids in Health and Disease, 2024

Genetic analysis and management of a familial hypercholesterolemia pedigree with polygenic variants: Case report.

Han Y et al.

Medicine, 2023

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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."