Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.E615_D616Splc
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LDLR

NM_000527.5:p.E615_D616Splc

Associated Papers

First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.

Ncir WB et al.

Journal of Cellular and Molecular Medicine, 2026

Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.

Mahjoub F et al.

La Tunisie Medicale, 2025

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

Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Du Z et al.

Iscience, 2022

36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Vandrovcova J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Jelassi A et al.

Current Genomics, 2013

Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.

Jelassi A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.

Slimani A et al.

Atherosclerosis, 2012

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L et al.

Atherosclerosis, 2011

Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.

Jelassi A et al.

Annals of Clinical Biochemistry, 2011

Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.

Jelassi A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

[Familial hypercholesterolemia in Tunisia].

Jelassi A et al.

Pathologie-biologie, 2009

Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.

Jelassi A et al.

Atherosclerosis, 2009

Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.

Miyake Y et al.

Atherosclerosis, 2009

Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective.

Laurie AD et al.

Atherosclerosis. Supplements, 2004

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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."