机译:Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants
Inst Personalized Med,Icahn Sch Med Mt Sinai;
Grad Sch Biomed Sci,Icahn Sch Med Mt Sinai;
Lab Human Genet Infect Dis,INSERM 1163Dept Pediat,Hiroshima UnivInst Med Genet,Cardiff UnivDept Pharmacol Sci,Icahn Sch Med Mt Sinai;
WISKOTT-ALDRICH-SYNDROME; FUNCTION MUTATION; TRUNCATING MUTATIONS; INBORN-ERRORS; C3 CONVERTASE; COMPLEMENT C3; LAST EXON; DOMINANT; COMMON; STATISTICS;