UniProt Genomic Mapping for Deciphering Functional Effects of Missense Variants
Peter B. McGarvey, Andrew Nightingale, Jie Luo, Hongzhan Huang, Maria Jesus Martin, Cathy H. Wu
The paper maps UniProtKB protein annotations to the human genome and demonstrates their utility in interpreting genetic variants.
Human Mutation · Mar 6, 2019Peer-reviewedGenomics