Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
对 TSC1 和 TSC2 进行靶向基因组测序，揭示了先前结节性硬化症基因检测结果正常的个体中存在的致病变异。
期刊:Human Mutation
影响因子:3.7
doi:10.1155/2023/4899372
West, Hannah D; Nellist, Mark; Brouwer, Rutger W W; van den Hout-van Vroonhoven, Mirjam C G N; de Almeida, Luiz Gustavo Dufner; Hendriks, Femke; Elfferich, Peter; Raja, Meera; Giles, Peter; Alfano, Rosa M; Peron, Angela; Sznajer, Yves; De Waele, Liesbeth; Jansen, Anna; Koopmans, Marije; Kievit, Anneke; Farach, Laura S; Northrup, Hope; Sampson, Julian R; Thomas, Laura E; van IJcken, Wilfred F J
