Mutations on the Protein: Q9BYV8 From Positions: 19 To 37
Swiss-Prot Polymorphism: VAR_067053 
OMIM Disease: 610523.0005 
p.MET36THR
N/A
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N/A
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JOUBERT SYNDROME 9/15, DIGENIC
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OMIM Disease: 610523.0007 
p.SER28TER
N/A
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N/A
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JOUBERT SYNDROME 15
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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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3
1
0
2
N/A