Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G197E
Back to variants list

TAFAZZIN

NM_000116.5:p.G197E

Associated Papers

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

Taylor C et al.

Journal of Inherited Metabolic Disease, 2022

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.

Mazzarotto F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33500567 (PubMed )
Supplement: 41436_2020_1049_MOESM2_ESM.xlsx › Table_S2

Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain.

Hijikata A et al.

Meta Gene, 2015

Cardiolipin provides an essential activating platform for caspase-8 on mitochondria.

Gonzalvez F et al.

The Journal of Cell Biology, 2008

Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle.

Bissler JJ et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2002

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."