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Mutations on the Protein: NP_001035930 From Positions: 369 To 395

2
0
0
2




OMIM Disease: 176801.0010
p.CYS382GLY
N/A
N/A
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY


OMIM Disease: 176801.0004
p.CYS385PHE
N/A
N/A
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY






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