Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1A
Variant:p.G418R
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ATP5F1A

NM_004046.6:p.G418R

Associated Papers

ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish.

Xian C et al.

Journal of Translational Medicine, 2025

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

Harrer P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 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."