{"id":"W1989667924","doi":"10.1002/humu.22104","title":"Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis","year":2012,"lang":"en","type":"article","venue":"Human Mutation","topic":"Proteoglycans and glycosaminoglycans research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. John’s Health Sciences Centre","funders":"","keywords":"Biology; Phenotype; Genetics; Proteoglycan; Hum; Ossification center; Mutation; Short stature; Dysplasia; Gene; Ossification; Anatomy; Endocrinology","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":[0.0001162612,0.0006276341,0.0001799908,0.001152689,0.0002134738,0.0001804859,0.0001119464,0.0002177476,0.00291092],"category_scores_gemma":[0.0003202998,0.00008577322,0.0001116382,0.0002859244,0.0002258322,0.0001043693,0.0002707134,0.0002015907,0.0002397303],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001566378,"about_ca_system_score_gemma":0.0001329054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005798546,"about_ca_topic_score_gemma":0.0011596,"domain_scores_codex":[0.9999,0.00001616506,0.00001250634,0.00002664326,0.00002659762,0.00001804692],"domain_scores_gemma":[0.9998217,0.00005984972,0.00004334038,0.00001042741,0.000023883,0.00004075235],"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":[0.0006625612,0.0001093775,0.0877661,0.0001499129,0.00002564556,0.01930789,0.0002788318,0.000312658,0.8712282,0.0004734332,0.0002795285,0.01940592],"study_design_scores_gemma":[0.00009919016,0.0006888548,0.6096471,0.00006115756,0.00008609347,0.1159927,0.0004183508,0.002436527,0.2593842,0.0006628835,0.0104894,0.00003356192],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976699,0.0004480238,0.0005244685,0.00003960822,0.00000380114,0.00001065049,0.0001949977,0.0000137023,0.001094895],"genre_scores_gemma":[0.9975973,0.0002969752,0.001068839,0.00001543874,0.000005706892,0.00001098479,0.0002666919,0.000006091408,0.0007319623],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00291092,"threshold_uncertainty_score":0.009737968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01505941667048009,"score_gpt":0.2777168268801138,"score_spread":0.2626574102096337,"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."}}