{"id":"W2034471193","doi":"10.1002/ajmg.a.30855","title":"Schmid type of metaphyseal chondrodysplasia and <i>COL10A1</i> mutations—findings in 10 patients","year":2005,"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":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital; University of Ottawa; Hospital for Sick Children","funders":"Novo Nordisk Canada; Hospital for Sick Children","keywords":"Short stature; Orthopedic surgery; Medicine; Radiography; Osteochondrodysplasia; Internal medicine; Surgery; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000227679,0.001188126,0.0005839557,0.001458613,0.0008694896,0.0005235389,0.0003763377,0.0007444794,0.001779735],"category_scores_gemma":[0.001547667,0.0007141553,0.0003373518,0.0006306334,0.001119907,0.0003066518,0.0005579965,0.0004222335,0.0003298321],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006414595,"about_ca_system_score_gemma":0.0003638819,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00404653,"about_ca_topic_score_gemma":0.00360436,"domain_scores_codex":[0.9995909,0.00004522116,0.0000527915,0.0001246999,0.00009374127,0.00009257831],"domain_scores_gemma":[0.9993693,0.0001286471,0.0001716519,0.00003196815,0.00005851213,0.0002399404],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0009527631,0.000431079,0.6403017,0.0001699993,0.0001676516,0.2999988,0.002124797,0.0005386989,0.03261264,0.0005031302,0.0009350652,0.02126371],"study_design_scores_gemma":[0.00013278,0.001442576,0.4991751,0.00003380303,0.00009175849,0.4919026,0.0005289023,0.0004990576,0.004197981,0.0001943456,0.001736121,0.0000651068],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986672,0.0002704142,0.0001767052,0.00004575969,0.000009567078,0.00002446807,0.0000987696,0.00001759618,0.0006894838],"genre_scores_gemma":[0.9990473,0.000124083,0.0002670796,0.00008180381,0.00001655682,0.0000117543,0.0001113135,0.000004799415,0.0003352349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00404653,"threshold_uncertainty_score":0.008045971,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01252024838719746,"score_gpt":0.3242695540767845,"score_spread":0.3117493056895871,"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."}}