Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.
Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C, et al. 2017. Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. Genome medicine 9(1): 113. DOI: 10.1186/s13073-017-0509-y