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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFA9

Variant:p.G267Splc

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NDUFA9

NM_005002.5:p.G267Splc

hg38:chr12:4682204 G>C

Associated Papers

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Blickhäuser B et al.

Brain : a Journal of Neurology, 2024

38478578 (PubMed )

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.

Nesti C et al.

Journal of Neurology, 2023

36939934 (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."