Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.A301T
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COQ2

NM_001358921.2:p.A301T

Associated Papers

Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.

Li XY et al.

European Journal of Neurology, 2024

Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders.

Si L et al.

Neurogenetics, 2023

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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."