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FOXC2 mutations identified in LD patients enrolled for the study.
| Patient | Mutation | Protein | Transcriptional Activity of Mutant Protein * |
|---|---|---|---|
| P1 (M) | c.1475C>T | p.A492V | 182% |
| P2 (M) | c.682G>A | p.V228M | 70% |
| P3 (M) | c.327C>A | p.Y109* | 0% |
| P4 (F) | c.637A>G | p.I213V | 103% |
| P5 (F) | c.595dupC | p.H199Pfs264* | 28% |
| P6 (F) | c.638delT | p.I213Tfs18* | 30% |
| P7 (F) | c.638delT | p.I213Tfs18* | 30% |
