Mutations on the Protein: NP_001108450 From Positions: 500 To 527
OMIM Disease: 603273.0010 

p.CYS522GLY

N/A
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N/A
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ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
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OMIM Disease: 603273.0018 

p.ILE510THR

N/A
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N/A
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ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME, INCLUDED
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OMIM Disease: 603273.0009 

p.LEU514PHE

N/A
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N/A
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ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
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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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