Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis
TSC2基因第25和31外显子内的变异极不可能导致临床可诊断的结节性硬化症
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22951
Ekong, Rosemary; Nellist, Mark; Hoogeveen-Westerveld, Marianne; Wentink, Marjolein; Panzer, Jessica; Sparagana, Steven; Emmett, Warren; Dawson, Natalie L; Malinge, Marie Claire; Nabbout, Rima; Carbonara, Caterina; Barberis, Marco; Padovan, Sergio; Futema, Marta; Plagnol, Vincent; Humphries, Steve E; Migone, Nicola; Povey, Sue
