ACMG/AMP Interpretation of BRCA1 Missense Variants: Structure-informed Scores Add Evidence Strength Granularity to the PP3/BP4 Computational Evidence.

Lobna Ramadane-Morchadi, Nitsan Rotenberg, Ada Esteban-Sánchez,Cristina Fortuno, Alicia Gómez-Sanz, Matthew J Varga, Adam Chamberlin, Marcy E Richardson,Kyriaki Michailidou,Pedro Pérez-Segura, Amanda B Spurdle,Miguel de la Hoya

American journal of human genetics（2025）

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