Differences in patient ascertainment affect the use of gene-adapted ACMG/AMP phenotype-related variant classification rules: evidence for TP53

  • Authors: Cristina Fortuno; Tina Pesaran; Jill S. Dolinsky; Amal Yussuf; Kelly McGoldrick; David Goldgar; Paul A. James; Amanda B. Spurdle
  • Collaborators: Parkville Familial Cancer Centre; QIMR Berghofer Medical Research Institute; University of Utah
  • Journal: Human Mutation
  • Date: 2020 - Jan

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