Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq

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 predictions. Therefore, a targeted RNAseq-based ap...

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Auteurs principaux: 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
Format: article
Langue:EN
Publié: Nature Portfolio 2021
Sujets:
Medicine
R
Genetics
QH426-470
Accès en ligne:https://doaj.org/article/982c0d93ba4e444ea8df66af21437691
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https://doaj.org/article/982c0d93ba4e444ea8df66af21437691

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