Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1E
Variant:p.G40insFs
Back to variants list

ATP5F1E

NM_006886.4:p.G40insFs

Associated Papers

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Tauchmannová K et al.

Physiological Research, 2024

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Mayr JA et al.

Human Molecular Genetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."