Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.L759fs
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LDLR

NM_000527.5:p.L759fs

Associated Papers

Founder Variants in the Mexican Population: A Systematic Review.

Harari-Arakindji S et al.

Archives of Medical Research, 2025

High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.

Rodríguez-Gutiérrez PG et al.

Archives of Medical Research, 2024

Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.

Bruckert E et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2022

36325897 (PubMed )
Supplement: atv-42-1447-s001.pdf

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

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Goodrich JK et al.

Nature Communications, 2021

34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2

LDLR Gene Mutation p.Asp360His and Familial Hypercholesterolemia in a Mexican Community.

Hernández Flores TJ et al.

Archives of Medical Research, 2020

Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.

Hernández Flores TJ 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."