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Mutations on the Protein: Q9P2R7 From Positions: 116 To 139

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1
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Swiss-Prot Disease: VAR_046215
p.GLY118ARG
N/A
N/A
Mitochondrial DNA depletion syndrome 5 (MTDPS5)


OMIM Disease: 603921.0003
p.GLY118ARG
N/A
N/A
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC TYPE WITH||METHYLMALONIC ACIDURIA)






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