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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

Document Type

Article

Author

Douben, H.; Hoogeveen-Westerveld, M.; Nellist, M.; Louwen, J.; Haan, M.K.-D.; Punt, M.; Van Ommeren, B.; Van Unen, L.; Elfferich, P.; Kasteleijn, E.; Van Bever, Y.; Van Vliet, M.; Saris, J.J.; Wagner, A.; Van Ierland, Y.; Van Ham, T.; Van Minkelen, R.; Oostenbrink, R.

Source

In: Human Mutation. (Human Mutation, 2023, 2023)

Subject

Language

English

ISSN

10981004
10597794

Online Access

Full Text (Wiley Journals) Full Text (ProQuest Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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