{"id":"W2048693470","doi":"10.1002/(sici)1096-8628(20000214)90:4<310::aid-ajmg9>3.0.co;2-n","title":"Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder","year":2000,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital","funders":"Hospital for Sick Children","keywords":"Medicine; Polydactyly; Anatomy","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002617753,0.0001734147,0.000337612,0.0000333168,0.00007530618,0.00001648462,0.0004678546,0.0001077981,0.0001793612],"category_scores_gemma":[0.000257046,0.0001200635,0.000137093,0.000207797,0.0005847752,0.000003425368,0.0001217295,0.0002200086,0.000001660789],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007316849,"about_ca_system_score_gemma":0.0003078948,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003004432,"about_ca_topic_score_gemma":0.00001006244,"domain_scores_codex":[0.9982086,0.0001679947,0.0005010798,0.0001925489,0.0006746426,0.0002550698],"domain_scores_gemma":[0.9987905,0.00003356078,0.0003416224,0.0002921101,0.0001552076,0.0003869793],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001142959,0.0007012683,0.169724,0.0001083479,0.0007583934,0.00008400583,0.0005917818,0.0009006117,0.1186717,0.00001129286,0.003454366,0.7038513],"study_design_scores_gemma":[0.003140763,0.005800794,0.9028758,0.0006737336,0.000810385,0.001180608,0.003883018,0.001087713,0.04143796,0.0002223679,0.03787418,0.001012632],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938448,0.004352351,0.0004443643,0.0009542953,0.0001602934,0.00007559954,0.00001888922,0.000002490478,0.0001469028],"genre_scores_gemma":[0.9943861,0.003454088,0.0009092119,0.0007789707,0.0003018647,0.00000108943,0.000004947929,0.00002254838,0.0001411901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7331519,"threshold_uncertainty_score":0.4896045,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006639253775211937,"score_gpt":0.2678063612690108,"score_spread":0.2611671074937988,"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."}}