Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.R94G
Back to variants list

TAFAZZIN

NM_000116.5:p.R94G

Associated Papers

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

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

Taylor C et al.

Journal of Inherited Metabolic Disease, 2022

Single Nuclei Sequencing Reveals Novel Insights Into the Regulation of Cellular Signatures in Children With Dilated Cardiomyopathy.

Nicin L et al.

Circulation, 2021

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

Hijikata A et al.

Meta Gene, 2015

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."