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Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation

  • Elena J. Tucker
  • , Masakazu Mimaki
  • , Alison G. Compton
  • , Matthew McKenzie
  • , Michael T. Ryan
  • , David R. Thorburn
  • Royal Children's Hospital Melbourne
  • University of Melbourne
  • La Trobe University
  • Hudson Institute of Medical Research
  • Australian Research Council

Research output: Contribution to journal › Article › peer-review

56 Scopus citations

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Biochemistry, Genetics and Molecular Biology