ClinGen HBOP VCEP curation of ATM variants associated with Ataxia-Telangiectasia
Title: ClinGen HBOP VCEP curation of ATM variants associated with Ataxia-Telangiectasia
Authors: Marcy E. Richardson; Terra Brannan; Susan Hiraki; Megan Holdren; Huei San Leong; Victor Martinez; Yu Mei; Akila S. Shanmugasundaram; Shofia Souceradjou; Colin Young; Lauren Zec; Fergus J. Couch
Collaborators: Boston Children's Hospital; GeneDx; Mayo Clinic; Natera; Peter MacCallum Cancer Centre and Royal Melbourne Hospital