{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009270491,0.0007623346,0.0002584412,0.0005617341,0.0002474449,0.0002258365,0.0001385118,0.0004182768,0.001841844],"category_scores_gemma":[0.0002500701,0.0002098089,0.0003221424,0.0001763475,0.0004486375,0.0000753943,0.0002190484,0.0004541677,0.0003333176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00035042,"about_ca_system_score_gemma":0.0001211785,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001152181,"about_ca_topic_score_gemma":0.001645157,"domain_scores_codex":[0.9998553,0.00001549769,0.00001394052,0.00004988785,0.00004127645,0.00002414389],"domain_scores_gemma":[0.99984,0.00004653164,0.00006066377,0.000008149469,0.00001028671,0.00003437667],"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":[0.0001701969,0.00001849023,0.01358733,0.00004453527,0.0000260977,0.006677069,0.0001644023,0.000110556,0.9766794,0.00009304016,0.0001281071,0.002300698],"study_design_scores_gemma":[0.00007133021,0.0003823215,0.3700302,0.00003862599,0.0001403418,0.05227522,0.0003215916,0.001759004,0.5710316,0.0003035778,0.00360487,0.00004121809],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979916,0.0002381446,0.0009801727,0.0000575709,0.000007728735,0.000006694126,0.00025507,0.00005100013,0.000412035],"genre_scores_gemma":[0.997723,0.0001187647,0.001170127,0.00007562407,0.000006932838,0.000009953863,0.0003093035,0.00002934875,0.0005568137],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001841844,"threshold_uncertainty_score":0.006161571,"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."}}