{"id":"W2162444478","doi":"10.1172/jci22760","title":"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 Clinical Investigation","topic":"Osteomyelitis and Bone Disorders Research","field":"Medicine","cited_by":165,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Canadian Arthritis Network; Eunice Kennedy Shriver National Institute of Child Health and Human Development; U.S. Public Health Service; National Institutes of Health; Lastentautien Tutkimussäätiö; Novo Nordisk; Canadian Institutes of Health Research; European Society for Paediatric Endocrinology; Massachusetts General Hospital","keywords":"Missense mutation; Hyperostosis; Exon; Locus (genetics); Pathology; Medicine; Biology; Genetics; Anatomy; Mutation; Gene","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":[0.0001590364,0.0007760367,0.0002831921,0.0008192772,0.0004086245,0.0002135234,0.0002753652,0.0007712741,0.001584755],"category_scores_gemma":[0.0007870184,0.0001488074,0.0002229595,0.000360417,0.0004231117,0.0001300036,0.0002716364,0.0002705344,0.0002231722],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002713095,"about_ca_system_score_gemma":0.00016406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002490849,"about_ca_topic_score_gemma":0.002891243,"domain_scores_codex":[0.9998376,0.00002027476,0.00001426263,0.00005386625,0.00003780391,0.0000361465],"domain_scores_gemma":[0.9997206,0.00009481994,0.00006766356,0.0000102405,0.00002120565,0.00008533245],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0008454073,0.0002279793,0.08972575,0.0002328241,0.00009026474,0.6392769,0.0009408445,0.0004777583,0.235829,0.0006068067,0.001740859,0.03000564],"study_design_scores_gemma":[0.0001301598,0.0004891443,0.3538349,0.00008426874,0.0001121077,0.6157167,0.0001651505,0.001208376,0.02187643,0.0002351117,0.006114613,0.00003319192],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974918,0.0005732898,0.000518812,0.0001265301,0.00002732835,0.00002172741,0.0001284286,0.00003633101,0.001075612],"genre_scores_gemma":[0.9986273,0.0001707419,0.0005557166,0.00005767172,0.00004045005,0.000007303523,0.00007932312,0.000006344207,0.0004552126],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002490849,"threshold_uncertainty_score":0.005301595,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05092044256924046,"score_gpt":0.3787556705562603,"score_spread":0.3278352279870199,"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."}}