Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1B
Variant:p.L335P
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ATP5F1B

NM_001686.4:p.L335P

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

H+-slip correlated to rotor free-wheeling as cause of F1FO-ATPase dysfunction in primary mitochondrial disorders.

Nesci S et al.

Medicinal Research Reviews, 2024

Variants in ATP5F1B are associated with dominantly inherited dystonia.

Nasca A et al.

Brain : a Journal of Neurology, 2023

'Rotor free-wheeling' in impaired F1FO-ATPase induces congenital hypermetabolism.

Nesci S et al.

Trends in Endocrinology and Metabolism: Tem, 2023

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.

Ganetzky RD et al.

The New England Journal of Medicine, 2022

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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."