{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001083786,0.0001919701,0.0006664801,0.0004155035,0.00008207792,0.000009315933,0.0001783382,0.00008184862,0.0003776783],"category_scores_gemma":[0.002894592,0.0001125913,0.0001424357,0.0009429614,0.001795863,0.000158477,0.00004110729,0.0005294073,0.000005536062],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001322485,"about_ca_system_score_gemma":0.0005329432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001316274,"about_ca_topic_score_gemma":0.0002460442,"domain_scores_codex":[0.997223,0.0001812867,0.001113428,0.0001756022,0.001000943,0.0003057332],"domain_scores_gemma":[0.9981056,0.0004154058,0.0004995803,0.0002063553,0.0003720585,0.0004009906],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005518772,0.003166525,0.5440342,0.0006878278,0.0008921961,0.00051114,0.03150809,0.001264215,0.3732734,0.005179728,0.01140755,0.02255628],"study_design_scores_gemma":[0.01308532,0.003453357,0.9585188,0.001787826,0.0003153008,0.0001884277,0.006465272,0.003111548,0.008687974,0.002032214,0.002165305,0.0001886239],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9209723,0.0015105,0.00009364347,0.07589788,0.0001052832,0.0004849938,0.00001467555,0.000006954262,0.0009138013],"genre_scores_gemma":[0.9979767,0.0004507555,0.0002931303,0.0007405393,0.0002234096,0.00001038815,0.0000174503,0.00002229209,0.0002653159],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4144846,"threshold_uncertainty_score":0.6616932,"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."}}