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Mutations on the Protein: P21333 From Positions: 529 To 662

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Swiss-Prot Disease: VAR_012834
p.LEU656PHE
N/A
N/A
Periventricular nodular heterotopia 1 (PVNH1)


Swiss-Prot Disease: VAR_064157
p.PRO637GLN
N/A
N/A
Cardiac valvular dysplasia X-linked (CVDX)


Swiss-Prot Disease: VAR_015719
p.THR555LYS
N/A
N/A
Otopalatodigital syndrome 2 (OPD2)


Swiss-Prot Polymorphism: VAR_012833
p.VAL552ALA
N/A
N/A
N/A


OMIM Disease: 300017.0006
p.LEU656PHE
N/A
N/A
HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT


OMIM Disease: 300017.0030
p.PRO637GLN
N/A
N/A
CARDIAC VALVULAR DYSPLASIA, X-LINKED






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