Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.T534N
Back to variants list

LDLR

NM_000527.5:p.T534N

Associated Papers

Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.

Yazıcı H et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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_

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Ibrahim S et al.

Circulation. Genomic and Precision Medicine, 2023

37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.

Turkyilmaz A et al.

Metabolic Syndrome and Related Disorders, 2021

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

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

Investigation of the genetic background of familial hypercholesterolemia in a Turkish cohort and its clinical implications.

Kındış E 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."