Varaico: Literature-Extracted Genetic Variants

Gene:MTRFR
Variant:p.N58fs
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MTRFR

NM_152269.5:p.N58fs

Associated Papers

Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.

Perrone E et al.

Genetics and Molecular Biology, 2020

Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.

Nishihara H et al.

Neurology. Genetics, 2017

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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."