Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.H176P
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TAFAZZIN

NM_000116.5:p.H176P

Associated Papers

A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report.

Krawiec M et al.

Frontiers in Pediatrics, 2025

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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."