Reverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes

REPETTO LISBOA, MARIA GABRIELAMARIA GABRIELAREPETTO LISBOAHestand, MSMSHestandNowakowska, BABANowakowskaVergaelen, EEVergaelenDemaerel, WWDemaerelBreckpot, JJBreckpotCutler, DJDJCutlerCrowley, TBTBCrowleyArmando, MMArmandoPhilip, NNPhilipSchneider, MMSchneiderEliez, SSEliezDevriendt, KKDevriendtMcDonald-McGinn, DMDMMcDonald-McGinnMorrow, BEBEMorrowSwillen, AASwillenVermeesch, JRJRVermeesch2024-05-082024-05-082018https://investigadores.udd.cl/handle/123456789/9461WOS:000489312600187Reverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genesResource Types::text::conference output::conference proceedings::conference poster