Varaico: Literature-Extracted Genetic Variants

Gene:ATPAF2
Variant:p.P82L
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ATPAF2

NM_145691.4:p.P82L

Associated Papers

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

Tauchmannová K et al.

Physiological Research, 2024

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

Oláhová M et al.

American Journal of Human Genetics, 2018

29478781 (PubMed )
Supplement: mmc2.pdf
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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."