• Media type: E-Article
  • Title: Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
  • Contributor: Bournazos, Adam M.; Riley, Lisa G.; Bommireddipalli, Shobhana; Ades, Lesley; Akesson, Lauren S.; Al-Shinnag, Mohammad; Alexander, Stephen I.; Archibald, Alison D.; Balasubramaniam, Shanti; Berman, Yemima; Beshay, Victoria; Boggs, Kirsten; Bojadzieva, Jasmina; Brown, Natasha J.; Bryen, Samantha J.; Buckley, Michael F.; Chong, Belinda; Davis, Mark R.; Dawes, Ruebena; Delatycki, Martin; Donaldson, Liz; Downie, Lilian; Edwards, Caitlin; Edwards, Matthew; [...]
  • Published: Elsevier BV, 2022
  • Published in: Genetics in Medicine, 24 (2022) 1, Seite 130-145
  • Language: English
  • DOI: 10.1016/j.gim.2021.09.001
  • ISSN: 1098-3600
  • Origination:
  • Footnote:
  • Access State: Open Access