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Table 3 New mutations described

From: Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

New mutations described
Missense Nonsense Splice-site Frameshift Small deletion Insertion
c.1318 C > T c.4648G > T (p.Glu1550X) c.6757G > T c.27_28delGG c.1756_1759delACTA c.6791-6792insA
c.6757G > T c.5149A > T (p.Lys1717X) c.6782C > T    
c.5992G > C   c.2709G > A    
c.5482G > T   c.1228_1260 + 3del36    
c.5546G > A   c.1527 + 1G > T    
c.3112A > G   c.3871-1G > T    
c.1316 T > C   c.288 + 5G > A    
c.4268A > T   c.3974 + 2_3974 + 3delTTinsGG    
c.2709G > A   c.1261-1G > C    
c.7694C > G