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Mutations on the Protein: P49419 From Positions: 270 To 296

2
1
0
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Swiss-Prot Disease: VAR_069185
p.GLY291GLU
N/A
N/A
Pyridoxine-dependent epilepsy (PDE)


OMIM Disease: 107323.0008
p.ASN273ILE
N/A
N/A
EPILEPSY, PYRIDOXINE-DEPENDENT






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