Mutations on the Protein: Q6V0I7 From Positions: 3736 To 3985
dbSNP Polymorphism: rs17009684 
Swiss-Prot Polymorphism: VAR_039863 
dbSNP Polymorphism: rs75380987 
OMIM Disease: 612411.0006 
p.ARG3819TER
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VAN MALDERGEM SYNDROME 2
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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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