{"id":"W2047647225","doi":"10.1002/ajmg.a.32586","title":"Absence of apparent disease causing mutations in <i>COL5A3</i> in 13 patients with hypermobility Ehlers–Danlos syndrome","year":2008,"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":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of General Medical Sciences","keywords":"Ehlers–Danlos syndrome; Hypermobility (travel); Disease; Mutation; Content (measure theory); Medicine; Dermatology; Gene; Genetics; Biology; Internal medicine; Physical therapy; Mathematics","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":[0.0002576871,0.001181756,0.0004890528,0.001543467,0.0008991375,0.0006961845,0.0006452894,0.0009745929,0.004631925],"category_scores_gemma":[0.002128531,0.0005366005,0.000481943,0.0009406136,0.001005727,0.0003695556,0.0004078055,0.0005276308,0.0006767155],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003132653,"about_ca_system_score_gemma":0.000370775,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003824942,"about_ca_topic_score_gemma":0.002804895,"domain_scores_codex":[0.9995408,0.00005288449,0.00007549053,0.0001656412,0.00009244036,0.00007264472],"domain_scores_gemma":[0.9991482,0.0003361188,0.0002270207,0.0000408556,0.00007397162,0.0001737805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001639743,0.000312729,0.7721809,0.0001330387,0.0002318889,0.1713286,0.001869421,0.0005112265,0.03632065,0.0004178592,0.001389505,0.01366439],"study_design_scores_gemma":[0.0001347444,0.0006686553,0.7024012,0.00006801453,0.0003600952,0.2872517,0.0009647897,0.0007152673,0.005050087,0.0003140108,0.001976536,0.00009496319],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977947,0.0002289988,0.0002844543,0.00007542976,0.00002078271,0.00001548258,0.0002464939,0.00001420317,0.001319357],"genre_scores_gemma":[0.9988834,0.0001088977,0.0002736954,0.00004979338,0.00002248464,0.00000916483,0.0001978583,0.00001187928,0.0004428657],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004631925,"threshold_uncertainty_score":0.01549536,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01463866312544438,"score_gpt":0.2890100086450362,"score_spread":0.2743713455195919,"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."}}