Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.V237delFs
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TAFAZZIN

NM_000116.5:p.V237delFs

Associated Papers

Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies-A Comprehensive Narrative Review.

Sergi CM

Genes, 2025

Extended recovery of cardiac function after severe infantile cardiomyopathy presentation of Barth syndrome.

Yester J et al.

Jimd Reports, 2022

Clinical presentation and natural history of Barth Syndrome: An overview.

Taylor C et al.

Journal of Inherited Metabolic Disease, 2022

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

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

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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."