{"id":"W2129670814","doi":"10.1002/humu.21150","title":"<i>OBSL1</i>mutations in 3-M syndrome are associated with a modulation of<i>IGFBP2</i>and<i>IGFBP5</i>expression levels","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Biology; Genetics; Missense mutation; Locus (genetics); Gene; Candidate gene; Nonsense-mediated decay; Gene expression; Microarray analysis techniques; Microarray; Molecular biology; Mutation; RNA","routes":{"ca_aff":true,"ca_fund":false,"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":[],"consensus_categories":[],"category_scores_codex":[0.0001783899,0.000124435,0.0001492263,0.0000924313,0.0001003068,0.00001815901,0.00006172978,0.0001210697,0.000009892131],"category_scores_gemma":[0.00007524066,0.0001197471,0.00003068794,0.0001458216,0.00004610714,0.00001646674,0.00001552277,0.00007795811,0.000001365267],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002221867,"about_ca_system_score_gemma":0.00002808858,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009994909,"about_ca_topic_score_gemma":0.00008503344,"domain_scores_codex":[0.9991305,0.00009197629,0.0002382908,0.000245749,0.0001467279,0.0001466913],"domain_scores_gemma":[0.9994936,0.00001547243,0.0002107311,0.0001423394,0.00009567722,0.00004217497],"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":[0.00004354019,0.000119152,0.005318704,0.00002089954,0.00001396921,0.00001372,0.0005718519,0.0008506147,0.9918616,0.000182603,0.00003412247,0.0009691773],"study_design_scores_gemma":[0.001427133,0.0006803425,0.7252217,0.0002206626,0.00001933559,0.0000301659,0.00012144,0.0003070261,0.2681916,0.003520775,0.00003469561,0.0002250939],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982877,0.00008934063,0.0008792159,0.000106962,0.00001543568,0.0002804055,0.00003329252,0.00001823863,0.0002893634],"genre_scores_gemma":[0.9987292,0.000004618086,0.0005190418,0.0001007216,0.00002105344,0.0000239017,0.0004871931,0.00001340732,0.0001008168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.72367,"threshold_uncertainty_score":0.4883144,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0207192943692755,"score_gpt":0.2583704709105746,"score_spread":0.2376511765412991,"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."}}