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Mutations on the Protein: Q6VVB1 From Positions: 296 To 316

3
2
0
1


Swiss-Prot Disease: VAR_046401
p.ASP308ALA
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


Swiss-Prot Disease: VAR_019488
p.GLN302PRO
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


OMIM Disease: 608072.0007
p.ASP308ALA
N/A
N/A
EPILEPSY, PROGRESSIVE MYOCLONIC 2B






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