Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies
Gökhan Ünlü, Xinzi Qi, Eric R. Gamazon, D. Melville, Nisha Patel, Amy R. Rushing, Mais Hashem, Abdullah Alfaifi, Rui Chen, Bingshan Li, Nancy J. Cox, Fowzan S. Alkuraya, Ela W. Knapik
Topics & Concepts
PhenomeBiobankZebrafishMendelian inheritanceDiseaseOMIM : Online Mendelian Inheritance in ManMechanism (biology)Human geneticsBiologyPhenotypeExome sequencingBioinformaticsGeneticsExomeCandidate geneMedicineComputational biologyGenePathologyEpistemologyPhilosophyGenetic Associations and EpidemiologyRNA Research and SplicingConnective tissue disorders research