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PreprintAll rights reservedbioRxiv

Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment

  • K. Rodenburg
  • R. T. W. Schellens
  • S. Broekman
  • L. Fenwick
  • F. A. Winkelaar
  • D. H. Wijn
  • G. D. N. Astuti
  • G. Khazeeva
  • C. Gillissen
  • F. P. M. Cremers
  • R. J. E. Pennings
  • T. Peters
10 more authors
  • U. Zechner
  • D. Rosenkranz
  • C. Betz
  • M. Gawai
  • V. Hochleimer
  • S. E. de Bruijn
  • E. de Vrieze
  • H. J. Bolz
  • S. Roosing
  • E. van Wijk1
  1. 1Radboud University Medical Center Nijmegen
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Cite

BibTeXRIS
BibTeX
@misc{rodenburg2026deepintronic,
  title = {{Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment}},
  author = {K. Rodenburg and R. T. W. Schellens and S. Broekman and L. Fenwick and F. A. Winkelaar and D. H. Wijn and G. D. N. Astuti and G. Khazeeva and C. Gillissen and F. P. M. Cremers and R. J. E. Pennings and T. Peters and U. Zechner and D. Rosenkranz and C. Betz and M. Gawai and V. Hochleimer and S. E. de Bruijn and E. de Vrieze and H. J. Bolz and S. Roosing and E. van Wijk},
  howpublished = {bioRxiv},
  year = {2026},
  month = oct,
  doi = {10.64898/2026.10.28.753787},
  url = {https://www.biorxiv.org/content/10.64898/2026.10.28.753787v1},
}
RIS
TY  - UNPB
TI  - Deep-intronic variants in USH2A: the importance of model selection in variant interpretation and pathogenicity assessment
AU  - K. Rodenburg
AU  - R. T. W. Schellens
AU  - S. Broekman
AU  - L. Fenwick
AU  - F. A. Winkelaar
AU  - D. H. Wijn
AU  - G. D. N. Astuti
AU  - G. Khazeeva
AU  - C. Gillissen
AU  - F. P. M. Cremers
AU  - R. J. E. Pennings
AU  - T. Peters
AU  - U. Zechner
AU  - D. Rosenkranz
AU  - C. Betz
AU  - M. Gawai
AU  - V. Hochleimer
AU  - S. E. de Bruijn
AU  - E. de Vrieze
AU  - H. J. Bolz
AU  - S. Roosing
AU  - E. van Wijk
PY  - 2026
DA  - 2026/10/28
PB  - bioRxiv
DO  - 10.64898/2026.10.28.753787
UR  - https://www.biorxiv.org/content/10.64898/2026.10.28.753787v1
ER  -