Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.G396Splc
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LDLR

NM_000527.5:p.G396Splc

Associated Papers

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

Mahjoub F et al.

La Tunisie Medicale, 2025

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

Jelassi A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

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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."