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Mutations on the Protein: P53420 From Positions: 1183 To 1268

3
1
0
2



Swiss-Prot Disease: VAR_001913
p.GLY1201SER
N/A
N/A
Alport syndrome, autosomal recessive (APSAR)


OMIM Disease: 120131.0001
p.GLY1201SER
N/A
N/A
ALPORT SYNDROME, AUTOSOMAL RECESSIVE


OMIM Disease: 120131.0002
p.SER1238TER
N/A
N/A
ALPORT SYNDROME, AUTOSOMAL RECESSIVE






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