{"id":"W2115714868","doi":"10.1165/rcmb.2005-0206oc","title":"A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease","year":2005,"lang":"en","type":"article","venue":"American Journal of Respiratory Cell and Molecular Biology","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":84,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; GlaxoSmithKline; Centers for Medicare and Medicaid Services; Agency for Healthcare Research and Quality; National Institutes of Health","keywords":"Pulmonary disease; Exon; Elastin; Mutation; Medicine; Terminal (telecommunication); Disease; Genetics; Internal medicine; Biology; Pathology; Gene; Computer science","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001792765,0.000962103,0.0003077935,0.0004299329,0.0005311585,0.0002431192,0.0002763525,0.001371583,0.0008921645],"category_scores_gemma":[0.000683207,0.0001425758,0.000389513,0.0003159582,0.0008424853,0.0001283301,0.0003851494,0.0005541893,0.0003039052],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002276833,"about_ca_system_score_gemma":0.0002565381,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001066978,"about_ca_topic_score_gemma":0.001401998,"domain_scores_codex":[0.9998688,0.00002487095,0.00001953879,0.00003221113,0.00003355227,0.00002111656],"domain_scores_gemma":[0.9995628,0.0001738571,0.00009371092,0.00001689992,0.00002072862,0.0001319815],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00105278,0.0003309328,0.036825,0.0001578624,0.0001412918,0.3792812,0.0005220798,0.001017179,0.5648255,0.0009820437,0.0006958382,0.01416837],"study_design_scores_gemma":[0.0002538652,0.00134236,0.1868642,0.00007273731,0.0002065968,0.7265393,0.0002906791,0.002358366,0.0772585,0.001001293,0.003717006,0.00009508726],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980818,0.0002791474,0.0008334354,0.0001657897,0.0000349001,0.00002008788,0.0001164078,0.0000245491,0.0004439153],"genre_scores_gemma":[0.9988361,0.0001005628,0.0006113368,0.00009115753,0.00002632053,0.000005957548,0.00007089957,0.000007645019,0.000250005],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001371583,"threshold_uncertainty_score":0.002984583,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008433956605693505,"score_gpt":0.2690499418437989,"score_spread":0.2606159852381054,"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."}}