Varaico: Literature-Extracted Genetic Variants

Gene:DLG1
Variant:p.R519H
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DLG1

NM_001366207.1:p.R519H

Associated Papers

Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.

d'Apolito M et al.

International Journal of Molecular Sciences, 2025

Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.

Mondéjar-Parreño G et al.

Cell Discovery, 2025

A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis.

d'Apolito M et al.

Genes, 2023

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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."