TY - RPRT TI - Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records. AU - Rory J Tinker AU - Josh Peterson AU - Lisa Bastarache PY - 2023 DO - 10.1016/j.gim.2023.100921 UR - https://pubmed.ncbi.nlm.nih.gov/37337966/ ID - 37337966 ER -