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Mutations on the Protein: Q6VVB1 From Positions: 59 To 79

4
3
0
1



Swiss-Prot Disease: VAR_046389
p.CYS68TYR
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


Swiss-Prot Disease: VAR_046388
p.GLU67GLN
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


Swiss-Prot Disease: VAR_019484
p.PRO69ALA
N/A
N/A
Epilepsy, progressive myoclonic 2 (EPM2)


OMIM Disease: 608072.0002
p.PRO69ALA
N/A
N/A
EPILEPSY, PROGRESSIVE MYOCLONIC 2B






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