Literature summary for 2.7.1.113 extracted from

Fang, W.; Song, P.; Xie, X.; Wang, J.; Lu, Y.; Li, G.; Abuduxikuer, K.
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene (2017), Oncotarget, 8, 84309-84319 .

Protein Variants

Protein Variants	Comment	Organism
I43T	the mutation is associated with infantile mitochondrial DNA depletion syndrome	Homo sapiens
R105*	the mutation is associated with infantile mitochondrial DNA depletion syndrome	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	Q16854	-	-

Synonyms	Comment	Organism
DGUOK	-	Homo sapiens

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Release 2023.1 (January 2023)