Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA9
Variant:p.R132*
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NDUFA9

NM_005002.5:p.R132*

Associated Papers

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.

Lim AZ et al.

Annals of Neurology, 2022

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).

Shimazaki H et al.

Journal of Medical Genetics, 2012

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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."