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Regions of SCN2A with functionally validated epilepsy variants with references.
| Gene | Amino acids affected by missense variants | Deletion regions | Protein-truncating variant regions | References |
|---|---|---|---|---|
| SCN2A | R19, R1902, R1882, R853, L1563, R1312, Y1589, R1319, L1563, L1330, M252, V261, A263, I1473, E1211, D649, F1597, V423, G899, N1622, G879-L881, G211, R223 | - | R102 | (11, 99, 101, 109, 121, 122) |
