{"id":"W2093049113","doi":"10.1002/ajmg.a.35319","title":"A co‐occurrence of osteogenesis imperfecta type VI and cystinosis","year":2012,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Biomedical Research and Pathophysiology","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; Vancouver General Hospital; McGill University; University of British Columbia","funders":"","keywords":"Cystinosis; Osteogenesis imperfecta; Genetics; Gene duplication; Phenotype; Gene; Biology; Medicine; Pathology; Cystine; Biochemistry","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":[0.0001082554,0.0005965869,0.0005576061,0.000972858,0.000688742,0.0004014246,0.0003203709,0.0007931991,0.002142329],"category_scores_gemma":[0.00127429,0.0002964818,0.0003140563,0.0007090803,0.0004814723,0.0002669112,0.0005456638,0.000567706,0.0003240467],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002288623,"about_ca_system_score_gemma":0.000364698,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001297136,"about_ca_topic_score_gemma":0.001958936,"domain_scores_codex":[0.9996032,0.00002696745,0.00003961971,0.0001277068,0.0001062674,0.00009630761],"domain_scores_gemma":[0.9988962,0.0002869435,0.0004203769,0.00005745002,0.00006901634,0.0002699227],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000303932,0.00008579378,0.2975759,0.0001450044,0.00007700824,0.6414895,0.0004236136,0.0001821125,0.0468406,0.0005174188,0.0004972441,0.01186186],"study_design_scores_gemma":[0.000006505875,0.000136704,0.08086989,0.00001623965,0.00004435308,0.9124683,0.0001355265,0.0002253855,0.004568052,0.0001436301,0.001372374,0.00001298727],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948454,0.0009153619,0.001279374,0.0001028642,0.00003564654,0.000028939,0.0001741712,0.00005799838,0.002560268],"genre_scores_gemma":[0.9975591,0.0003025343,0.001043792,0.00005311163,0.00003734059,0.000006468458,0.0001230378,0.00001344627,0.0008612487],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002142329,"threshold_uncertainty_score":0.007166862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03308313604449304,"score_gpt":0.3706947592475203,"score_spread":0.3376116232030273,"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."}}