학술논문
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
Document Type
Article
Author
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