Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence
通过功能表征和临床证据确定患者来源的TSC2突变的致病性
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2011.38
Dunlop, Elaine A; Dodd, Kayleigh M; Land, Stephen C; Davies, Peter A; Martins, Nicole; Stuart, Helen; McKee, Shane; Kingswood, Chris; Saggar, Anand; Corderio, Isabel; Medeira, Ana Maria Duarte; Kingston, Helen; Sampson, Julian R; Davies, David Mark; Tee, Andrew R
