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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP5F1A

Variant:p.L109S

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ATP5F1A

NM_004046.6:p.L109S

hg38:chr18:46089980 A>G

Associated Papers

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Fielder SM et al.

Embo Molecular Medicine, 2025

40859057 (PubMed )

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

Fielder SM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40672495 (PubMed )

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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."