ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence
Titel:
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence
Auteur:
Ramadane-Morchadi, Lobna Rotenberg, Nitsan Esteban-Sánchez, Ada Fortuno, Cristina Gómez-Sanz, Alicia Varga, Matthew J. Chamberlin, Adam Richardson, Marcy E. Michailidou, Kyriaki Pérez-Segura, Pedro Spurdle, Amanda B. de la Hoya, Miguel