% pubman genre = meeting-abstract @inproceedings{item_3383290, title = {{Phenotype-Tissue expression and exploration (PTEE) facilitates RNA-seq-based Mendelian disease diagnosis}}, author = {Velluva, Akhil and Radtke, Maximilian and Horn, Susanne and Platzer, Konrad and Gjermeni, Erind and Lemke, Johannes R. and Sch{\"o}neberg, Torsten and Kelso, Janet and Jamra, Rami Abou and Le Duc, Diana}, language = {eng}, doi = {10.1038/s41431-021-01026-1}, year = {2022}, journal = {{European Journal of Human Genetics}}, volume = {30}, pages = {499}, address = {Virtual}, note = {54th European Society of Human Genetics (ESHG) Conference}, }