Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.N40D
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TAFAZZIN

NM_000116.5:p.N40D

Associated Papers

Tafazzin regulates neutrophil maturation and inflammatory response.

Zakrzewski P et al.

Embo Reports, 2025

New targets for monitoring and therapy in Barth syndrome.

Thompson WR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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

Hijikata A et al.

Meta Gene, 2015

Seven functional classes of Barth syndrome mutation.

Whited K et al.

Human Molecular Genetics, 2013

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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."