Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Y42*
Back to variants list

LDLR

NM_000527.5:p.Y42*

Associated Papers

Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.

Ferch M et al.

European Journal of Preventive Cardiology, 2025

39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx

Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.

Reijman MD et al.

Current Opinion in Lipidology, 2023

36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_

The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.

Gazzotti M et al.

Frontiers in Genetics, 2022

35795214 (PubMed )
Supplement: DataSheet1.docx

Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.

Sabatel-Pérez F et al.

Journal of Clinical Medicine, 2021

33668494 (PubMed )
Supplement: jcm-10-00749-s001.pdf

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Kamar A et al.

Frontiers in Genetics, 2020

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.

Pirillo A et al.

Atherosclerosis. Supplements, 2017

Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

Jannes CE et al.

Atherosclerosis, 2015

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."