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

    Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome by Douben, Hannie, Hoogeveen-Westerveld, Marianne, Nellist, Mark, Louwen, Jesse, Haan, Marian Kroos-de, Punt, Mattijs, van Ommeren, Babeth, van Unen, Leontine, Elfferich, Peter, Kasteleijn, Esmee, van Bever, Yolande, van Vliet, Margreethe, Oostenbrink, Rianne, Saris, Jasper J., Wagner, Anja, van Ierland, Yvette, van Ham, Tjakko, van Minkelen, Rick

    Published in Human mutation
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