Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C95W
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LDLR

NM_000527.5:p.C95W

Associated Papers

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

He L et al.

Genes & Genomics, 2025

Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Moradi A et al.

Frontiers in Genetics, 2021

Recently reported familial hypercholesterolemia-related mutations from cases in the Middle East and North Africa region.

Awan ZA et al.

Current Opinion in Lipidology, 2019

Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia

Ekrami M et al.

Iranian Biomedical Journal, 2018

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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."