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Mutations on the Protein: P21333 From Positions: 265 To 397

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Swiss-Prot Disease: VAR_015718
p.ALA273PRO
N/A
N/A
Otopalatodigital syndrome 2 (OPD2)


Swiss-Prot Disease: VAR_064156
p.GLY288ARG
N/A
N/A
Cardiac valvular dysplasia X-linked (CVDX)


Swiss-Prot Polymorphism: VAR_012832
p.PHE370LEU
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_012831
p.VAL320ALA
N/A
N/A
N/A


OMIM Disease: 300017.0031
p.GLY288ARG
N/A
N/A
CARDIAC VALVULAR DYSPLASIA, X-LINKED






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