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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFS7

Variant:p.E92_M93del1

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NDUFS7

NM_024407.5:p.E92_M93del1

hg38:chr19:1390917 AGAT>A

Associated Papers

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Fiorini C et al.

Brain : a Journal of Neurology, 2025

41234160 (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."