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From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
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Authors

  1. Correspondence to Dr Chee-Seng Ku, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 17177, Sweden; cheeseng.ku{at}ki.se and Professor David N Cooper, Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK; cooperDN{at}cardiff.ac.uk
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Citation

Ku C, Tan EK, Cooper DN
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic disease
Journal of Medical Genetics 2013;50:203-211.

Publication history

  • Received January 4, 2013
  • Accepted January 9, 2013
  • First published February 9, 2013.
Online issue publication 
April 27, 2016

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