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Mutations on the Protein: P07602 From Positions: 367 To 393

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Swiss-Prot Disease: VAR_006945
p.CYS388PHE
N/A
N/A
Gaucher disease, atypical, due to saposin C deficiency (AGD)


OMIM Disease: 176801.0010
p.CYS379GLY
N/A
N/A
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY


OMIM Disease: 176801.0004
p.CYS382PHE
N/A
N/A
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY






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