A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia

참고문헌 (5)

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5. Varma H, "Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion", Eur J Med Genet, 59, pp.540~545 (2016)

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