Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K581Q
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LDLR

NM_000527.5:p.K581Q

Associated Papers

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

Huang MN et al.

Lipids in Health and Disease, 2024

39731075 (PubMed )
Supplement: 12944_2024_2406_MOESM1_ESM.xlsx › Sheet1

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."