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
Walker, L.C.; Wiggins, G.A.R.; Hoya, M.D.L.; Lindy, A.; Bis-Brewer, D.; Vincent, L.M.; Parsons, M.T.; Canson, D.M.; Spurdle, A.B.; Cass, A.; Tchourbanov, A.; Zimmermann, H.; Pesaran, T.; Karam, R.; Harrison, S.M.; Byrne, A.B.; Biesecker, L.G.; Tayoun, A.A.; Berg, J.S.; Brenner, S.E.; Cutting, G.R.; Ellard, S.; Greenblatt, M.S.; Kang, P.; Karbassi, I.; Karchin, R.; Mester, J.; O'Donnell-Luria, A.; Plon, S.E.; Rehm, H.L.; Strande, N.T.; Tavtigian, S.V.; Topper, S.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 July 2023, 110(7):1046-1067)
Subject
Language
English
ISSN
15376605
00029297
00029297