Mutations on the Protein: NP_001035931 From Positions: 368 To 395
OMIM Disease: 176801.0010 
p.CYS381GLY
N/A
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N/A
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GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
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OMIM Disease: 176801.0004 
p.CYS384PHE
N/A
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N/A
|
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GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
|
|---|
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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