Varaico: Literature-Extracted Genetic Variants

Gene:COQ2
Variant:p.A97fs
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COQ2

NM_015697.9:p.A97fs

Associated Papers

Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.

Abdelhakim AH et al.

Orphanet Journal of Rare Diseases, 2020

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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."