ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

Specialty Areas:
Date: January 17, 2024
Authors:
Leslie G. Biesecker, Alicia B. Byrne, Steven M. Harrison, Tina Pesaran, MA, MS, CGC, Alejandro A Schäffer, Brian H. Shirts, Sean Tavtigian, Heidi L. Rehm
Journal: American journal of human genetics
Journal Volume: 111