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Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

Chunling Hu, Huaizhi Huang, Jie Na, Carolyn A. Lumby, Mohamed Abozaid, Megan Holdren, T. Jagan Mohan Rao, Rachid Karam, Tina Pesaran, Jamie Weyandt, Christen M. Csuy, Christina Seelaus, Colin C. Young, Kelly Fulk, Zahra Heidari, Paulo C. Lyra, Ronan E. Couch, Benjamin Persons, Eric C. Polley, Rohan Gnanaolivu, Nicholas Boddicker, Álvaro N.A. Monteiro, Siddhartha Yadav, Susan M. Domchek, Marcy E. Richardson, Fergus J. Couch

2024The American Journal of Human Genetics16 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationGeneticsBiologyIn silicoGermlineGenetic testingMutationComputational biologyGeneBRCA gene mutations in cancerGenomics and Rare DiseasesCRISPR and Genetic Engineering
Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain | Litcius