Varaico: Literature-Extracted Genetic Variants

Gene:FASTKD5
Variant:p.P573fs
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FASTKD5

NM_021826.5:p.P573fs

Associated Papers

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.

Antonicka H et al.

American Journal of Human Genetics, 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."