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Original article
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Authors

  1. Correspondence to Dr Diana Baralle and David Hunt, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, SO16 5YA, UK; david.hunt2{at}uhs.nhs.uk, d.baralle{at}soton.ac.uk
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Citation

Hunt D, Leventer RJ, Simons C, et al
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Publication history

  • Received September 30, 2014
  • Revised October 6, 2014
  • Accepted October 8, 2014
  • First published October 23, 2014.
Online issue publication 
April 27, 2016

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