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Mutations on the Protein: P17302 From Positions: 57 To 76

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Swiss-Prot Disease: VAR_058997
p.ARG76HIS
N/A
N/A
Hallermann-Streiff syndrome (HSS)


Swiss-Prot Disease: VAR_015755
p.ARG76SER
N/A
N/A
Oculodentodigital dysplasia (ODDD)


Swiss-Prot Disease: VAR_058996
p.PRO59HIS
N/A
N/A
Oculodentodigital dysplasia (ODDD)


Swiss-Prot Disease: VAR_038358
p.SER69TYR
N/A
N/A
Oculodentodigital dysplasia (ODDD)


OMIM Disease: 121014.0017
p.ARG76HIS
N/A
N/A
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OMIM Disease: 121014.0018
p.ARG76SER
N/A
N/A
OCULODENTODIGITAL DYSPLASIA






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