Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework

Genome medicine

Gustavo Glusman, Peter W Rose, Andreas Prlić, …, Yana Valasatava, Yang Zhang, Eric W Deutsch

• DOI: 10.1186/s13073-017-0509-y
• PMID: 29254494
• PMCID: PMC5735928