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pro vyhledávání: '"K. B. M. Claes"'
Autor:
R. Koster, R. D. Brandão, D. Tserpelis, C. E. P. van Roozendaal, C. N. van Oosterhoud, K. B. M. Claes, A. D. C. Paulussen, M. Sinnema, M. Vreeburg, V. van der Schoot, C. T. R. M. Stumpel, M. P. G. Broen, L. Spruijt, M. C. J. Jongmans, S. A. J. Lesnik Oberstein, A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk, K. W. J. Derks, H. G. Brunner, A. van den Wijngaard, M. van Geel, M. J. Blok
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Abstract Neurofibromatosis type 1 (NF1) is caused by loss-of-function variants in the NF1 gene. Approximately 10% of these variants affect RNA splicing and are either missed by conventional DNA diagnostics or are misinterpreted by in silico splicing
Externí odkaz:
https://doaj.org/article/982c0d93ba4e444ea8df66af21437691
