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Mutations on the Protein: NP_001073279 From Positions: 0 To 32

4
0
0
4





OMIM Disease: 611458.0001
p.ARG19CYS
N/A
N/A
GM1-GANGLIOSIDOSIS, TYPE I


OMIM Disease: 611458.0023
p.ARG29HIS
N/A
N/A
GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT||GM1-GANGLIOSIDOSIS, TYPE I, INCLUDED


OMIM Disease: 611458.0004
p.ILE21THR
N/A
N/A
GM1-GANGLIOSIDOSIS, TYPE III


OMIM Disease: 611458.0015
p.TYR1HIS
N/A
N/A
MUCOPOLYSACCHARIDOSIS TYPE IVB






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