Article
Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification…
Human Mutation · 2022 · Hannie Douben, author Marianne Hoogeveen-Westerveld, author Mark Nellist, author Jesse Louwen, author Marian Kroos-de Haan, author Mattijs Punt, author Babeth van Ommeren, author Leontine van Unen, author Peter Elfferich, author Esmee Kasteleijn, author Yolande van Bever, author Margreethe van Vliet, author Rianne Oostenbrink, author Jasper J. Saris, author Anja Wagner, author Yvette van Ierland, author Tjakko van Ham, author Rick van Minkelen, author Hildegard Kehrer-Sawatzki, Academic Editor
Key facts
| Title | Functional Assays Combined with Pre-mRNA-Splicing Analysis Improve Variant Classification and Diagnostics for Individuals with Neurofibromatosis Type 1 and Legius Syndrome |
|---|---|
| First author | Hannie Douben, author Marianne Hoogeveen-Westerveld, author Mark Nellist, author Jesse Louwen, author Marian Kroos-de Haan, author Mattijs Punt, author Babeth van Ommeren, author Leontine van Unen, author Peter Elfferich, author Esmee Kasteleijn, author Yolande van Bever, author Margreethe van Vliet, author Rianne Oostenbrink, author Jasper J. Saris, author Anja Wagner, author Yvette van Ierland, author Tjakko van Ham, author Rick van Minkelen, author Hildegard Kehrer-Sawatzki, Academic Editor |
| Journal | Human Mutation |
| Published | Oct 11, 2022 |
| DOI | 10.1155/2023/9628049 |
| Product codes mentioned | KIT |
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- 1–9 Product codes mentioned
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