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Mutations on the Protein: Q9NQ40 From Positions: 399 To 422

3
2
0
1


Swiss-Prot Polymorphism: VAR_063699
p.SER411ARG
N/A
N/A
N/A


Swiss-Prot Disease: VAR_063700
p.VAL413ALA
N/A
N/A
Brown-Vialetto-Van Laere syndrome 1 (BVVLS1)


OMIM Disease: 613350.0006
p.VAL413ALA
N/A
N/A
BROWN-VIALETTO-VAN LAERE SYNDROME 1, MILD






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