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Mutations on the Protein: P02462 From Positions: 668 To 751

4
2
0
2



Swiss-Prot Disease: VAR_064496
p.GLY720ASP
N/A
N/A
Brain small vessel disease with hemorrhage (BSVDH)


Swiss-Prot Disease: VAR_030029
p.GLY749SER
N/A
N/A
Porencephaly 1 (POREN1)


OMIM Disease: 120130.0010
p.GLY720ASP
N/A
N/A
BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY


OMIM Disease: 120130.0002
p.GLY749SER
N/A
N/A
PORENCEPHALY 1






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