Varaico: Literature-Extracted Genetic Variants

Gene:OXA1L
Variant:p.I169insFs
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OXA1L

NM_005015.5:p.I169insFs

Associated Papers

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Thompson K et al.

Embo Molecular Medicine, 2018

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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."