Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.D360H
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LDLR

NM_000527.5:p.D360H

Associated Papers

Founder Variants in the Mexican Population: A Systematic Review.

Harari-Arakindji S et al.

Archives of Medical Research, 2025

Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?

Tandirerung FJ

Cardiovascular Drugs and Therapy, 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

Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia.

Hu YN et al.

Plos One, 2024

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Galicia-Garcia U et al.

Scientific Reports, 2020

32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf

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

Hernández Flores TJ et al.

Archives of Medical Research, 2020

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Ahmad Z et al.

Circulation. Cardiovascular Genetics, 2012

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."