Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.T43P
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TAFAZZIN

NM_000116.5:p.T43P

Associated Papers

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

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

Hijikata A et al.

Meta Gene, 2015

A novel mutation in the G4.5 (TAZ) gene in a Greek patient with Barth syndrome.

Bachou T et al.

Blood Cells, Molecules & Diseases, 0

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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."