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Mutations on the Protein: NP_001108452 From Positions: 88 To 117

3
0
0
3




OMIM Disease: 603273.0002
p.ARG110GLN
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3


OMIM Disease: 603273.0001
p.ARG110TRP
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3


OMIM Disease: 603273.0005
p.LYS100GLU
N/A
N/A
SPLIT-HAND/FOOT MALFORMATION 4






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