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Mutations on the Protein: O15305 From Positions: 37 To 49

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5
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Swiss-Prot Disease: VAR_022474
p.GLN37HIS
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Polymorphism: VAR_022133
p.GLN37LEU
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_022475
p.GLY42ARG
N/A
N/A
N/A


Swiss-Prot Disease: VAR_006093
p.VAL44ALA
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022563
p.VAL44LEU
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


OMIM Disease: 601785.0020
p.VAL44ALA
N/A
N/A
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia






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