{"id":"W2083941106","doi":"10.1038/gim.2014.4","title":"Genetic, cell biological, and clinical interrogation of theCFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention","year":2014,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Cystic Fibrosis Research Advances","field":"Medicine","cited_by":38,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Canadian Institutes of Health Research; World Health Organization","keywords":"Missense mutation; Cystic fibrosis transmembrane conductance regulator; Cystic fibrosis; Exon; Mutation; Biology; Genetics; Molecular biology; Exon skipping; Gene; genomic DNA; Medicine; Alternative splicing","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001047426,0.0006504166,0.0006469943,0.00141104,0.0005323719,0.001091616,0.0005722939,0.002174677,0.003918072],"category_scores_gemma":[0.003328777,0.0001407982,0.0003990508,0.0006925572,0.001019124,0.0005993579,0.0003478866,0.0009664591,0.0009000697],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006283398,"about_ca_system_score_gemma":0.0007960689,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003478843,"about_ca_topic_score_gemma":0.002756509,"domain_scores_codex":[0.9994492,0.0001686677,0.00005912589,0.0000825668,0.0001612079,0.00007932771],"domain_scores_gemma":[0.9989153,0.0005896641,0.0001826169,0.00005447503,0.0001397107,0.0001182217],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001607781,0.000670346,0.6477646,0.0002958048,0.0001756776,0.0238676,0.0006764312,0.002392843,0.1458705,0.005500054,0.01147242,0.1597061],"study_design_scores_gemma":[0.0002815822,0.00248773,0.6518018,0.001431567,0.0007444557,0.1157232,0.004285187,0.01145123,0.1042894,0.02756269,0.07968977,0.0002514064],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9107419,0.01911468,0.01415523,0.02585553,0.0006704021,0.0001871442,0.002037913,0.0004118233,0.02682526],"genre_scores_gemma":[0.982454,0.006241909,0.006151317,0.002286139,0.0004169045,0.00005519187,0.0005776036,0.00005583596,0.001761098],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003918072,"threshold_uncertainty_score":0.0131073,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03585697848831868,"score_gpt":0.4020587393875685,"score_spread":0.3662017608992498,"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."}}