Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.P757delFs
Back to variants list

LDLR

NM_000527.5:p.P757delFs

Associated Papers

Founder Variants in the Mexican Population: A Systematic Review.

Harari-Arakindji S et al.

Archives of Medical Research, 2025

Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome.

Al-Amodi HS et al.

Diabetology & Metabolic Syndrome, 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

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

Vaca G et al.

Atherosclerosis, 2011

Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.

Robles-Osorio L et al.

Archives of Medical Research, 2006

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

Santos RD et al.

Journal of Clinical Lipidology, 0

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

Hernández Flores TJ et al.

Journal of Clinical Lipidology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."