Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.V797Splc
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LDLR

NM_000527.5:p.V797Splc

Associated Papers

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

Meshkov A et al.

Genes, 2021

Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Semenova AE et al.

Journal of Cardiovascular Development and Disease, 2020

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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."