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Mutations on the Protein: Q9UJS0 From Positions: 574 To 608

2
1
0
1



Swiss-Prot Disease: VAR_016601
p.GLU601LYS
N/A
N/A
Cholestasis, neonatal intrahepatic, caused by citrin deficiency (NICCD)


OMIM Disease: 603859.0007
p.ARG587GLN
N/A
N/A
CITRULLINEMIA, TYPE II, ADULT-ONSET






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