Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.C116Y
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LDLR

NM_000527.5:p.C116Y

Associated Papers

Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program.

Šikonja J et al.

Atherosclerosis, 2025

Large-Scale CRISPR Screen of LDLR Pathogenic Variants.

Li M et al.

Research (washington, D.c.), 2023

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

Meshkov A et al.

Genes, 2021

Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.

Bassett JH et al.

Endocrine Reviews, 2016

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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."