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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFA9

Variant:p.R360G

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NDUFA9

NM_005002.5:p.R360G

hg38:chr12:4687052 C>G

Associated Papers

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.

Magrinelli F et al.

Brain Communications, 2025

41069424 (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."