Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.W443*
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LDLR

NM_000527.5:p.W443*

Associated Papers

A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.

Lin CF et al.

Journal of Clinical Lipidology, 2026

Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.

Raal F et al.

Circulation, 2024

37850379 (PubMed )
Supplement: cir-149-354-s001.pdf

Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.

Totoń-Żurańska J et al.

Polish Archives of Internal Medicine, 2023

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

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

Meshkov A et al.

Genes, 2021

The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Jiang L et al.

Scientific Reports, 2015

26608663 (PubMed )
Supplement: srep17272-s1.doc

Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.

Vaca G et al.

Atherosclerosis, 2011

Array-based resequencing for mutations causing familial hypercholesterolemia.

Chiou KR et al.

Atherosclerosis, 2011

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

Abifadel M et al.

Human Mutation, 2009

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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."