Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence
- 作者Dunlop, Elaine A; Dodd, Kayleigh M; Land, Stephen C; Davies, Peter A; Martins, Nicole; Stuart, Helen; McKee, Shane; Kingswood, Chris; Saggar, Anand; Corderio, Isabel
- 卷第19卷
- 期第7期
- 印刷ISSN1018-4813
- 文件大小468.00KB
- 发表时间2011
- DOI10.1038/ejhg.2011.38
- 页码789-795
同作者推荐
Comparison of genetic association strategies in the presence of rare allelesJestinah M Mahachie John; Tom Cattaert; Lizzy De Lobel; François Van Lishout; Alain Empain; Kristel Van Steen · 2011
Lower-Order Effects Adjustment in Quantitative Traits Model-Based Multifactor Dimensionality ReductionMahachie John, Jestinah M.; Cattaert, Tom; Van Lishout, François; Gusareva, Elena S.; Van Steen, Kristel; Li, Yun · PLoS ONE · 2012
Epistasis Detection in Genome-Wide Screening for Complex Human Diseases in Structured PopulationsAbegaz, Fentaw; Van Lishout, François; Mahachie John, Jestinah M.; Chiachoompu, Kridsadakorn; Bhardwaj, Archana; Gusareva, Elena S.; Wei, Zhi; Hakonarson, Hakon; Van Steen, Kristel · Systems Medicine · 2019