Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G80Splc
Back to variants list

TAFAZZIN

NM_000116.5:p.G80Splc

Associated Papers

Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome.

Sivitskaya L et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2021

Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.

Chatzispyrou IA et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

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."