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Mutations on the Protein: NP_001160022 From Positions: 368 To 391

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OMIM Disease: 300823.0013
p.ARG378GLN
N/A
N/A
MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM


OMIM Disease: 300823.0015
p.ARG378LEU
N/A
N/A
MUCOPOLYSACCHARIDOSIS TYPE II, SEVERE FORM


OMIM Disease: 300823.0012
p.ARG378TRP
N/A
N/A
MUCOPOLYSACCHARIDOSIS TYPE II, MILD FORM


OMIM Disease: 300823.0010
p.TRP385TER
N/A
N/A
MUCOPOLYSACCHARIDOSIS TYPE II






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