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Mutations on the Protein: Q00604 From Positions: 60 To 67

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7
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2



Swiss-Prot Disease: VAR_005487
p.ALA63ASP
N/A
N/A
Norrie disease (ND)


dbSNP Polymorphism: rs1126911
p.ARG64MET
N/A
N/A
N/A


Swiss-Prot Disease: VAR_005490
p.CYS65TRP
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_005488
p.CYS65TYR
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_064007
p.LEU61ILE
N/A
N/A
Vitreoretinopathy, exudative 2 (EVR2)


Swiss-Prot Disease: VAR_005485
p.LEU61PHE
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_005486
p.LEU61PRO
N/A
N/A
Norrie disease (ND)


Swiss-Prot Disease: VAR_005484
p.VAL60GLU
N/A
N/A
Norrie disease (ND)


OMIM Disease: 300658.0012
p.LEU61PHE
N/A
N/A
NORRIE DISEASE


OMIM Disease: 300658.0003
p.VAL60GLU
N/A
N/A
NORRIE DISEASE






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