• Media type: E-Article
  • Title: Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
  • Contributor: Abou Tayoun, Ahmad N.; Pesaran, Tina; DiStefano, Marina T.; Oza, Andrea; Rehm, Heidi L.; Biesecker, Leslie G.; Harrison, Steven M.
  • imprint: Hindawi Limited, 2018
  • Published in: Human Mutation
  • Language: English
  • DOI: 10.1002/humu.23626
  • ISSN: 1059-7794; 1098-1004
  • Origination:
  • Footnote: