Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.I591I
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COQ8A

NM_020247.5:p.I591I

Associated Papers

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.

Mohammad AN et al.

Molecular Genetics and Metabolism Reports, 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."