Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Autor: Richardson, Marcy E., Holdren, Megan, Brannan, Terra, de la Hoya, Miguel, Spurdle, Amanda B., Tavtigian, Sean V., Young, Colin C., Zec, Lauren, Hiraki, Susan, Anderson, Michael J., Walker, Logan C., McNulty, Shannon, Turnbull, Clare, Tischkowitz, Marc, Schon, Katherine, Slavin, Thomas, Foulkes, William D., Cline, Melissa, Monteiro, Alvaro N., Pesaran, Tina, Couch, Fergus J.
Zdroj: In The American Journal of Human Genetics 7 November 2024 111(11):2411-2426
Databáze: ScienceDirect