{"id":"W2784011661","doi":"10.14785/lymphosign-2017-0014","title":"Cartilage hair hypoplasia: Heterogeneity in clinical features and management among siblings","year":2018,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Immune system; Medicine; Hematopoietic stem cell transplantation; Disease; Internal medicine; Pediatrics; Immunology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0009972736,0.0001927879,0.0003007422,0.0002122596,0.0004193482,0.00006600842,0.0002776217,0.0002498077,0.00009590901],"category_scores_gemma":[0.0000482757,0.0001635078,0.0001302983,0.000193856,0.00068096,0.0001744268,0.0001244162,0.0004203221,0.0001039064],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004175302,"about_ca_system_score_gemma":0.00003935056,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005845991,"about_ca_topic_score_gemma":0.00004705036,"domain_scores_codex":[0.9983441,0.0002464431,0.0005726908,0.000295899,0.00005425352,0.000486634],"domain_scores_gemma":[0.999465,0.00006774973,0.0001835147,0.0002147839,0.00004873868,0.00002015347],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002405786,0.001827532,0.5370765,0.0001156927,0.0009712534,0.0006304911,0.007428967,0.00003048208,0.1445994,0.002936292,0.02266243,0.2793152],"study_design_scores_gemma":[0.006142001,0.000570491,0.9378292,0.0001796162,0.00007910151,0.001665386,0.001524931,0.00001591049,0.02978603,0.0007553681,0.02102161,0.0004303498],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9776299,0.01874393,0.0002242957,0.0001571067,0.001353843,0.0001500402,0.000002238315,0.0000323499,0.001706318],"genre_scores_gemma":[0.9974406,0.001409,0.00008732814,0.0003788334,0.00002707271,0.000006590637,0.000004932125,0.0000150845,0.0006305148],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4007528,"threshold_uncertainty_score":0.6667654,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01246502574335235,"score_gpt":0.2691173947640463,"score_spread":0.256652369020694,"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."}}