Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.K816*
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LDLR

NM_000527.5:p.K816*

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

Evolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies.

Raal FJ et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

38545781 (PubMed )
Supplement: atv-44-1156-s001.pdf

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.

Huang CC et al.

Journal of Atherosclerosis and Thrombosis, 2022

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

D'Erasmo L et al.

Orphanet Journal of Rare Diseases, 2021

34496902 (PubMed )
Supplement: 13023_2021_1999_MOESM1_ESM.docx

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

Array-based resequencing for mutations causing familial hypercholesterolemia.

Chiou KR et al.

Atherosclerosis, 2011

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M et al.

Human Mutation, 2010

Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.

Jelassi A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

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

Jelassi A et al.

Atherosclerosis, 2009

Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.

Bamimore MA et al.

Journal of Clinical Lipidology, 0

Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.

Chiou KR 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."