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Research

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

  • Joanna Kaplanis
  • Nadia Akawi
  • Giuseppe Gallone
  • Jeremy F. McRae
  • Elena Prigmore
  • Caroline F. Wright
  • ... [+1 authors] ...,
  • David R. Fitzpatrick
  • Helen V. Firth
  • Jeffrey C. Barrett
  • Matthew E. Hurles
  • First Published June 21, 2019
Research

Pathogenicity and selective constraint on variation near splice sites

  • Jenny Lord
  • Giuseppe Gallone
  • Patrick J. Short
  • Jeremy F. McRae
  • Holly Ironfield
  • Elizabeth H. Wynn Sebastian S. Gerety Liu He Bronwyn Kerr Diana S. Johnson Emma McCann Esther Kinning Frances Flinter I. Karen Temple Jill Clayton-Smith Meriel McEntagart Sally Ann Lynch Shelagh Joss Sofia Douzgou Tabib Dabir Virginia Clowes Vivienne P.M. McConnell Wayne Lam Caroline F. Wright
  • ... [+19 authors] ...,
  • David R. FitzPatrick
  • Helen V. Firth
  • Jeffrey C. Barrett
  • Matthew E. Hurles
  • First Published December 26, 2018
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