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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP5MC2

Variant:p.L118_G119insGT

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ATP5MC2

NM_005176.7:p.L118_G119insGT

hg38:chr12:53665388 G>GNNNNNN

Associated Papers

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

Tauchmannová K et al.

Physiological Research, 2024

39016153 (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."