{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002803315,0.00007982181,0.0001094507,0.0001046471,0.00003037678,0.000005944837,0.00005560447,0.00008361749,0.00002581616],"category_scores_gemma":[0.00006452961,0.00007974164,0.00002371901,0.0000940072,0.00005314905,0.00001552471,0.00002182911,0.00004844578,0.000001194349],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001585237,"about_ca_system_score_gemma":0.00004455013,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002266598,"about_ca_topic_score_gemma":0.0006243227,"domain_scores_codex":[0.9992667,0.00007674084,0.0002372559,0.0001339233,0.0001261395,0.0001591974],"domain_scores_gemma":[0.9996533,0.00001070384,0.0001116153,0.0001146667,0.00006957688,0.00004013371],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008463075,0.00008292457,0.0323954,0.00007832957,0.00001461735,3.15044e-7,0.0004122798,0.00007433505,0.9519699,0.0006042703,0.000004492811,0.01427846],"study_design_scores_gemma":[0.0003006677,0.0001473751,0.12619,0.00003007229,0.00001038067,0.000003970574,0.0002402869,0.0004748328,0.8723391,0.0001270271,0.00005444721,0.00008186551],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969174,0.0006698744,0.001558863,0.00005131834,0.00001407889,0.000360075,0.00001279528,0.000003057025,0.0004124894],"genre_scores_gemma":[0.9993388,0.00004348026,0.0003564064,0.000005765778,0.00006837645,0.0000595866,0.00005494099,0.00001085391,0.00006176914],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09379462,"threshold_uncertainty_score":0.325177,"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."}}