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Mutations on the Protein: NP_001073279 From Positions: 421 To 453

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OMIM Disease: 611458.0016
p.ARG452CYS
N/A
N/A
MUCOPOLYSACCHARIDOSIS TYPE IVB


OMIM Disease: 611458.0008
p.ARG427GLN
N/A
N/A
GM1-GANGLIOSIDOSIS, TYPE III


OMIM Disease: 611458.0010
p.ARG452HIS
N/A
N/A
MUCOPOLYSACCHARIDOSIS TYPE IVB||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED


OMIM Disease: 611458.0002
p.ARG427TER
N/A
N/A
GM1-GANGLIOSIDOSIS, TYPE I






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