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Mutations on the Protein: P48506 From Positions: 350 To 382

2
1
0
1



Swiss-Prot Disease: VAR_013514
p.HIS370LEU
N/A
N/A
Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)


OMIM Disease: 606857.0001
p.HIS370LEU
N/A
N/A
GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE||TO






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