Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.H176Y
Back to variants list

TAFAZZIN

NM_000116.5:p.H176Y

Associated Papers

A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report.

Krawiec M et al.

Frontiers in Pediatrics, 2025

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

Wang C et al.

Journal of the American Heart Association, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."