Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.A431V
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LDLR

NM_000527.5:p.A431V

Associated Papers

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.

Atava I et al.

International Journal of Molecular Sciences, 2024

Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.

Latkovskis G et al.

Journal of Clinical Medicine, 2023

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.

Pek SLT et al.

Atherosclerosis, 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."