Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G314Splc
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LDLR

NM_000527.5:p.G314Splc

Associated Papers

Primary care providers-initiated screening for familial hypercholesterolemia: a model proposed based on the Kordian primary prevention program for cardiovascular diseases.

Bobrowska B et al.

Polish Archives of Internal Medicine, 2026

Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Kim H et al.

Journal of Atherosclerosis and Thrombosis, 2022

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Sturm AC et al.

Jama Cardiology, 2021

34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf

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

Meshkov A et al.

Genes, 2021

Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea.

Lee SH

Journal of Atherosclerosis and Thrombosis, 2016

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Han SM et al.

Plos One, 2015

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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."