Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

  • L Loong
  • , C Cubuk
  • , S Choi
  • , S Allen
  • , B Torr
  • , A Garrett
  • , C Loveday
  • , M Durkie
  • , A Callaway
  • , GJ Burghel
  • , J Drummond
  • , R Robinson
  • , IR Berry
  • , A Wallace
  • , CanVIG-UK

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