{"id":"W2034394596","doi":"10.1002/ajmg.a.20059","title":"Bowen–Conradi syndrome: A clinical and genetic study","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; Alberta Children's Hospital; McGill University Health Centre; University of Calgary","funders":"Key Laboratory of Low-grade Energy Utilization Technology and System, Chongqing University","keywords":"Kinship; Natural history; Pediatrics; Demography; Medicine; Physics; Internal medicine","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":[0.0008814419,0.0001423899,0.000335968,0.00005324612,0.00004591226,0.00002580966,0.0002422601,0.00009149651,0.00009931132],"category_scores_gemma":[0.0006849649,0.0001184545,0.0001331114,0.0001188725,0.0005804361,0.00000231987,0.00006324347,0.0001885589,0.000005600313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004641157,"about_ca_system_score_gemma":0.0003726886,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002072676,"about_ca_topic_score_gemma":0.000004567376,"domain_scores_codex":[0.9977558,0.0004725259,0.0006965174,0.000236417,0.0006279225,0.0002107783],"domain_scores_gemma":[0.9984623,0.00004415986,0.0003141499,0.000260135,0.0001135486,0.0008057627],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000178194,0.001085198,0.9292733,0.000008301557,0.000380792,0.0009559931,0.0001396005,0.00004582995,0.0004736352,0.00004472019,0.004229546,0.06318491],"study_design_scores_gemma":[0.0050419,0.01025299,0.8572286,0.00004388668,0.0002477493,0.005165793,0.00150738,0.00009916142,0.0001859844,0.0001198379,0.1196845,0.0004222357],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961443,0.002172094,0.0007685274,0.0003844371,0.0002906774,0.0001149793,0.000001834119,0.000003030196,0.0001201192],"genre_scores_gemma":[0.9959709,0.001595707,0.001320861,0.0007883185,0.0002048434,0.000003326724,0.000001462842,0.00001835346,0.0000962487],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1154549,"threshold_uncertainty_score":0.4830433,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01607971907631358,"score_gpt":0.3290930180463664,"score_spread":0.3130132989700529,"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."}}