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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COQ8A

Variant:p.C629_K630del2

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COQ8A

NM_020247.5:p.C629_K630del2

hg38:chr1:226986677 CTGCAAG>C

Associated Papers

Primary Coenzyme Q10 Deficiency-4 Causing Young Onset Ataxia-Dystonia.

Radhakrishnan DM et al.

Movement Disorders Clinical Practice, 2024

38556906 (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."