Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1B
Variant:p.T334P
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ATP5F1B

NM_001686.4:p.T334P

Associated Papers

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Fielder SM et al.

Embo Molecular Medicine, 2025

40859057 (PubMed )
Supplement: 44321_2025_290_MOESM10_ESM.pdf

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

40276935 (PubMed )
Supplement: MDS-40-1388-s001.pdf

Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.

Ősz F et al.

Antioxidants (basel, Switzerland), 2025

Variants in ATP5F1B are associated with dominantly inherited dystonia.

Nasca A et al.

Brain : a Journal of Neurology, 2023

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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."