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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COQ8A

Variant:p.E551Q

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COQ8A

NM_020247.5:p.E551Q

hg38:chr1:226985332 G>C

Associated Papers

Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.

LoVoi J et al.

Neurology. Genetics, 2024

39296910 (PubMed )

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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."