Publication
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
Hannah D. West, Mark Nellist, Rutger W. W. Brouwer, Mirjam C. G. N. van den Hout-van Vroonhoven, Luiz Gustavo Dufner de Almeida, Femke Hendriks, Peter Elfferich, Meera Raja, Peter Giles, Rosa M. Alfano, Angela Peron, Yves Sznajer, Liesbeth De Waele, Anna Jansen, Marije Koopmans, Anneke Kievit, Laura S. Farach, Hope Northrup, Julian R. Sampson, Laura E. Thomas, Wilfred F. J. van IJcken
Human Mutation, July 2023, Hindawi Publishing Corporation
DOI: 10.1155/2023/4899372