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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COQ8A

Variant:p.T583delFs

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COQ8A

NM_020247.5:p.T583delFs

hg38:chr1:226986540 AC>A

Associated Papers

Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.

Monfrini E et al.

Neurology. Genetics, 2023

37090936 (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."