Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome

Hannie Douben, Marianne Hoogeveen-Westerveld, Mark Nellist, Jesse Louwen, Marian Kroos De Haan, Mattijs Punt, Babeth Van Ommeren, Leontine Van Unen, Peter Elfferich, Esmee Kasteleijn, Yolande Van Bever, Margreethe Van Vliet, Rianne Oostenbrink, Jasper J. Saris, Anja Wagner, Yvette Van Ierland, Tjakko Van Ham*, Rick Van Minkelen*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Biochemistry, Genetics and Molecular Biology