Varaico: Literature-Extracted Genetic Variants

Gene:DTNA
Variant:p.N49S
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DTNA

NM_001386795.1:p.N49S

Associated Papers

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.

Malakootian M et al.

Bmc Cardiovascular Disorders, 2022

35148685 (PubMed )
Supplement: 12872_2022_2485_MOESM1_ESM.docx

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Potential Common Pathogenic Pathways for the Left Ventricular Noncompaction Cardiomyopathy (LVNC).

Liu Y et al.

Pediatric Cardiology, 2018

Phenotype and Functional Analyses in a Transgenic Mouse Model of Left Ventricular Noncompaction Caused by a DTNA Mutation.

Cao Q et al.

International Heart Journal, 2017

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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."