Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53

• Authors: Cristina Fortuno; Tina Pesaran; Jill S. Dolinsky; Amal F. Yussuf; Kelly McGoldrick; David Goldgar; Paul A. James; Amanda B Spurdle
• Collaborators: Austin Hospital and Royal Melbourne Hospital; QIMR Berghofer Medical Research Institute; University of Utah
• Journal: Human Mutation
• Date: 2020 - Mar