{"id":"W3155376225","doi":"10.3390/jpm11040301","title":"Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTATM","year":2021,"lang":"en","type":"article","venue":"Journal of Personalized Medicine","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Hospital for Sick Children; Government of Canada; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"Ivacaftor; Cystic fibrosis transmembrane conductance regulator; Mutation; HEK 293 cells; Cystic fibrosis; Mutant; Transfection; Loss function; Biology; Phenotype; Cancer research; Medicine; Genetics; Cell biology; Gene; Molecular biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0007477667,0.0002099048,0.0007301508,0.0002700769,0.0001715741,0.0000192439,0.0001118801,0.0001008626,0.002629398],"category_scores_gemma":[0.005922165,0.0001514896,0.0002389072,0.0005415739,0.0003172256,0.000239055,0.00003882601,0.0006546747,0.00001473126],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000298943,"about_ca_system_score_gemma":0.0008358281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008703866,"about_ca_topic_score_gemma":0.000002790418,"domain_scores_codex":[0.9967395,0.0002201263,0.0007686247,0.0002718695,0.001640611,0.0003592776],"domain_scores_gemma":[0.9967014,0.0007628307,0.0004393316,0.0002274248,0.001292727,0.0005762929],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002277538,0.0002035776,0.001209758,0.0002043406,0.0001397706,0.0008568127,0.000714773,0.00001508659,0.7978809,0.00006850517,0.1933103,0.003118643],"study_design_scores_gemma":[0.0657331,0.004491306,0.03348542,0.01335002,0.001588326,0.01431977,0.01426773,0.0004589059,0.1526945,0.002020989,0.6968403,0.0007496399],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8148803,0.1114269,0.03022557,0.03588788,0.002285349,0.0007351279,0.00007655071,0.00009331301,0.004389044],"genre_scores_gemma":[0.927051,0.002149687,0.03724623,0.003112083,0.005405631,0.00003481485,0.0005632956,0.0001240071,0.02431324],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6451864,"threshold_uncertainty_score":0.9982823,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03276163830847337,"score_gpt":0.3335070731337056,"score_spread":0.3007454348252322,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}