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Mutations on the Protein: Q9H3D4 From Positions: 204 To 238

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3
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Swiss-Prot Polymorphism: VAR_020868
p.GLN204LEU
N/A
N/A
N/A


Swiss-Prot Disease: VAR_032737
p.LYS232GLU
N/A
N/A
Split-hand/foot malformation 4 (SHFM4)


Swiss-Prot Disease: VAR_020869
p.LYS233GLU
N/A
N/A
Split-hand/foot malformation 4 (SHFM4)


OMIM Disease: 603273.0002
p.ARG204GLN
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3


OMIM Disease: 603273.0024
p.ARG227GLN
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3||ADULT SYNDROME, INCLUDED


OMIM Disease: 603273.0028
p.ARG227PRO
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3


OMIM Disease: 603273.0001
p.ARG204TRP
N/A
N/A
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3






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