{"id":"W1994514833","doi":"10.1002/ajmg.a.20486","title":"Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Academy of Finland; Canadian Institutes of Health Research; European Commission","keywords":"Medicine; Short stature; Radiography; Osteoarthritis; Dysplasia; Ossification; Cartilage oligomeric matrix protein; Pathological; Cartilage; Anatomy; Pathology; Radiology; Internal medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002633079,0.002207396,0.001212601,0.00147295,0.001231051,0.0006809277,0.0006287208,0.001088611,0.002081639],"category_scores_gemma":[0.001598886,0.0007344892,0.0004727893,0.000945989,0.0008301163,0.0004258748,0.0007710367,0.0006229579,0.0005042021],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005230054,"about_ca_system_score_gemma":0.0003294296,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001769219,"about_ca_topic_score_gemma":0.001503221,"domain_scores_codex":[0.9995952,0.00004285263,0.00004876471,0.000142942,0.000072737,0.00009753171],"domain_scores_gemma":[0.9993421,0.0001320471,0.0001419605,0.00003195676,0.00007971264,0.0002721487],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006942929,0.0004928414,0.4742027,0.0002250337,0.0001482274,0.4738186,0.003500768,0.0005604924,0.01824675,0.0004681613,0.001687373,0.02595478],"study_design_scores_gemma":[0.0001034443,0.000788965,0.2506472,0.00005453913,0.000119776,0.7427425,0.0005928713,0.0004807041,0.001953299,0.0002477298,0.002197937,0.00007100936],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960877,0.0007446145,0.0007388262,0.0001344992,0.00001495857,0.0000646808,0.0002709532,0.00005363423,0.001890197],"genre_scores_gemma":[0.9974265,0.0003802859,0.0008044759,0.0001267834,0.00003657887,0.00005360081,0.0003597468,0.00001909989,0.0007929491],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002207396,"threshold_uncertainty_score":0.00696373,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02486251354151277,"score_gpt":0.3236687376188839,"score_spread":0.2988062240773711,"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."}}