Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.R416L
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LDLR

NM_000527.5:p.R416L

Associated Papers

Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Abdul Murad NA et al.

Genes, 2023

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Huang CC et al.

Journal of Atherosclerosis and Thrombosis, 2022

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

A Rare Missense Mutation and a Polymorphism with High Frequency in LDLR Gene among Iranian Patients with Familial Hypercholesterolemia.

Tajamolian M et al.

Advanced Biomedical Research, 2018

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

Array-based resequencing for mutations causing familial hypercholesterolemia.

Chiou KR et al.

Atherosclerosis, 2011

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Chiou KR et al.

Journal of Clinical Lipidology, 0

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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."