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Mutations on the Protein: P07602 From Positions: 210 To 236

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Swiss-Prot Disease: VAR_031823
p.ASN215HIS
N/A
N/A
Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)


Swiss-Prot Disease: VAR_031899
p.ASN215LYS
N/A
N/A
Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)


Swiss-Prot Disease: VAR_006943
p.THR217ILE
N/A
N/A
Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)


OMIM Disease: 176801.0007
p.ASN215HIS
N/A
N/A
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY


OMIM Disease: 176801.0001
p.THR217ILE
N/A
N/A
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY






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