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Mutations on the Protein: Q6VVB1 From Positions: 20 To 40

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3
0
1



Swiss-Prot Disease: VAR_019482
p.CYS26SER
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


Swiss-Prot Disease: VAR_019483
p.PHE33SER
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


Swiss-Prot Disease: VAR_046387
p.SER22ARG
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


OMIM Disease: 608072.0001
p.CYS26SER
N/A
N/A
EPILEPSY, PROGRESSIVE MYOCLONIC 2B






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