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Mutations on the Protein: Q12887 From Positions: 199 To 222

2
1
0
1





Swiss-Prot Disease: VAR_026563
p.ASN204LYS
N/A
N/A
Mitochondrial complex IV deficiency (MT-C4D)


OMIM Disease: 602125.0001
p.ASN204LYS
N/A
N/A
MITOCHONDRIAL COMPLEX IV DEFICIENCY||ENCEPHALOPATHY, PROGRESSIVE MITOCHONDRIAL, WITH PROXIMAL RENAL TUBULOPATHY||DUE TO






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