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

R. Koster, R.D. Brandao, 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.L. Oberstein, A.S. Plomp, M. Misra-Isrie, F.A. Duijkers, M.J. Louwers, R. SzklarczykK.W.J. Derks, H.G. Brunner, A. van den Wijngaard, M. van Geel, M.J. Blok*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Web of Science)
Original languageEnglish
Article number95
Number of pages10
Journalnpj Genomic Medicine
Volume6
Issue number1
DOIs
Publication statusPublished - 15 Nov 2021

Keywords

  • MUTATION
  • GENE
  • IDENTIFICATION
  • TRANSCRIPTS
  • GUIDELINES
  • DIAGNOSIS
  • VARIANTS
  • NONSENSE
  • SEQUENCE
  • DEFECTS

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