Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.Q221_G224delFs
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DGUOK

NM_080916.3:p.Q221_G224delFs

Associated Papers

A novel homozygous mutation, c.662_672del, in DGUOK gene causing mitochondrial DNA depletion syndrome of type hepatocerebral - A case report.

Radhakrishna K et al.

Clinics and Research in Hepatology and Gastroenterology, 2024

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