Mutations on the Protein: Q16832 From Positions: 727 To 770
Swiss-Prot Disease: VAR_063052 
p.ARG752CYS
N/A
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N/A
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Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL)
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OMIM Disease: 191311.0001 
p.ARG752CYS
N/A
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N/A
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SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
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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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