Mutations on the Protein: Q9H3D4 From Positions: 340 To 374
Swiss-Prot Disease: VAR_020876 

p.ARG343GLN

N/A
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N/A
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
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Swiss-Prot Disease: VAR_035127 

p.ARG352GLY

N/A
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N/A
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Non-syndromic orofacial cleft 8 (OFC8)
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Swiss-Prot Disease: VAR_032745 

p.ARG343TRP

N/A
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N/A
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
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Swiss-Prot Disease: VAR_020878 

p.ASP351GLY

N/A
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N/A
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
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Swiss-Prot Disease: VAR_032748 

p.ASP351HIS

N/A
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N/A
|
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
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Swiss-Prot Disease: VAR_020877 

p.CYS345ARG

N/A
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N/A
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
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Swiss-Prot Disease: VAR_032746 

p.CYS347SER

N/A
| |

N/A
|
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
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Swiss-Prot Disease: VAR_032747 

p.PRO348SER

N/A
| |

N/A
|
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)
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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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