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Mutations on the Protein: Q99698 From Positions: 950 To 1140

3
0
1
2


dbSNP Polymorphism: rs10465613
p.SER1017ASN
N/A
N/A


OMIM Disease: 606897.0002
p.ARG1103TER
N/A
N/A
CHEDIAK-HIGASHI SYNDROME, ADULT TYPE


OMIM Disease: 606897.0007
p.GLN1029TER
N/A
N/A
CHEDIAK-HIGASHI SYNDROME, CHILDHOOD TYPE






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