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Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome

  • Marta Llorens-Agost
  • , Janna Luessing
  • , Amandine van Beneden
  • , John Eykelenboom
  • , Dawn O'Reilly
  • , Louise S. Bicknell
  • , John J. Reynolds
  • , Marianne van Koegelenberg
  • , Matthew E. Hurles
  • , Angela F. Brady
  • , Andrew P. Jackson
  • , Grant S. Stewart
  • , Noel F. Lowndes
  • University of Galway
  • University of Dundee
  • University of Oxford Medical Sciences Division
  • University of Otago Medical School
  • University of Birmingham
  • Wellcome Trust Genome Campus
  • Northwick Park Hospital
  • University of Edinburgh

Research output: Contribution to a Journal (Peer & Non Peer) › Article › peer-review

12 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology