Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.M767delFs
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LDLR

NM_000527.5:p.M767delFs

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

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

Jelassi A et al.

Current Genomics, 2013

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

Slimani A et al.

Atherosclerosis, 2012

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

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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."