PheWeb applys a genotype imputation approach to whole exome sequencing data from the UK Biobank to increase sample size from 166,891 to 408,511. We detect 158 rare variants and 105 genes significantly
The system is a web application which runs in a standard browser. it catalogs the information to the group of rare diseases. European Society for Immunodeficiencies (ESID) operates an international re
The database incorporates manually curated data from more than 600 peer-reviewed publications in which a tRNA synthetase was used to load the ncAA onto the tRNA and where the evidence of ncAA incorpor
