Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions
Kathleen A. Clark, Andrew Paquette, Kayoko Tao, Russell Bell, Julie L. Boyle, Judith Rosenthal, Angela K. Snow, Alex W Stark, Bryony A. Thompson, Joshua Unger, Jason Gertz, Katherine E. Varley, Kenneth M. Boucher, David E. Goldgar, William D. Foulkes, Alun Thomas, Sean V. Tavtigian
Topics & Concepts
Missense mutationBiologyGeneticsComputational biologyPopulationPoint mutationGeneMutationMedicineEnvironmental healthCRISPR and Genetic EngineeringGenomics and Rare DiseasesBRCA gene mutations in cancer