{"id":"W2353350990","doi":"10.2310/6650.2005.00006.107","title":"108 A NOVEL COL1A1 MUTATION IN INFANTILE CORTICAL HYPEROSTOSIS (CAFFEY DISEASE) EXPANDS THE SPECTRUM OF COLLAGEN-RELATED DISORDERS","year":2005,"lang":"en","type":"article","venue":"Journal of Investigative Medicine","topic":"Osteomyelitis and Bone Disorders Research","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Dentinogenesis imperfecta; Missense mutation; Osteogenesis imperfecta; Exon; Mutation; Genetics; Hyperostosis; Biology; Locus (genetics); Gene; Anatomy","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":[0.0001157242,0.0007086759,0.0002596262,0.0007150972,0.0003300479,0.0001897286,0.0002393384,0.000850986,0.001961918],"category_scores_gemma":[0.0004847347,0.0001641474,0.0002719157,0.0002822859,0.0003221197,0.0001148887,0.0002301815,0.0002625998,0.0003201981],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002117739,"about_ca_system_score_gemma":0.0001232015,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002025382,"about_ca_topic_score_gemma":0.002210878,"domain_scores_codex":[0.9998808,0.00001673954,0.00001185407,0.0000374123,0.00002771827,0.00002548666],"domain_scores_gemma":[0.9997889,0.00008228628,0.00004154255,0.000007487225,0.00001574505,0.00006392621],"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":[0.000824915,0.0002957064,0.06694217,0.0001736625,0.00008178473,0.5865408,0.0006477216,0.0003618965,0.3190658,0.0004543748,0.00160836,0.02300277],"study_design_scores_gemma":[0.0002054805,0.0007179584,0.3352998,0.000092542,0.0001284894,0.6152793,0.0001604379,0.002121778,0.03877577,0.0002661117,0.006911666,0.00004062827],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974656,0.0004267718,0.000548713,0.0001271214,0.00002763424,0.00002239851,0.0001150946,0.00004103541,0.001225622],"genre_scores_gemma":[0.9985807,0.0001298911,0.0006594504,0.00006522784,0.0000410769,0.000007524261,0.00008650322,0.000009390529,0.0004203032],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002025382,"threshold_uncertainty_score":0.006563246,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02941083321035002,"score_gpt":0.3046492983030188,"score_spread":0.2752384650926687,"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."}}