Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
Resource Type
Article
Authors
Biesecker, Leslie G. ; Harrison, Steven M. ; Tayoun, Ahmad A. ; Berg, Jonathan S. ; Brenner, Steven E. ; Cutting, Garry R. ; Ellard, Sian ; Greenblatt, Marc S. ; Kang, Peter ; Karbassi, Izabela ; Karchin, Rachel ; Mester, Jessica ; O’Donnell-Luria, Anne ; Pesaran, Tina ; Plon, Sharon E. ; Rehm, Heidi L. ; Strande, Natasha T. ; Tavtigian, Sean V. ; Topper, Scott ; Walker, Logan C. ; Hoya, Miguel de la ; Wiggins, George A.R. ; Lindy, Amanda ; Vincent, Lisa M. ; Parsons, Michael T. ; Canson, Daffodil M. ; Bis-Brewer, Dana ; Cass, Ashley ; Tchourbanov, Alexander ; Zimmermann, Heather ; Byrne, Alicia B. ; Karam, Rachid ; Spurdle, Amanda B.
Source
In The American Journal of Human Genetics 6 July 2023 110(7):1046-1067
Subject
Language
ISSN
0002-9297