Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene - Sosnay, Patrick R; Siklosi, Karen R; Van Goor, Fredrick; Kaniecki, Kyle; Yu, Haihui; Sharma, Neeraj; Ramalho, Anabela S; Amaral, Margarida D; Dorfman, Ruslan; Zielenski, Julian; Masica, David L; Karchin, Rachel; et al. (Nature genetics, 2013)
Keywords: 631/208; 692/699; Agriculture; Algorithms; Animal Genetics and Genomics; Biomedicine; Cancer Research; Colleges & universities; Cystic fibrosis; Cystic Fibrosis - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Diagnosis; Experiments; Female; Gene Frequency; Gene Function; Genetic aspects; Genetic screening; Genetic translation; Genotype; Genotype & phenotype; Heterogeneity; Human Genetics; Humans; Laboratories; Liability; Male; Methods; Phenotype; United States