Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.R57delFs
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TAFAZZIN

NM_000116.5:p.R57delFs

Associated Papers

Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.

Zegallai HM et al.

Molecular and Cellular Biochemistry, 2021

Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.

Wang J et al.

Orphanet Journal of Rare Diseases, 2017

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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."