{"id":"W2531200591","doi":"10.1016/j.ajhg.2016.08.019","title":"Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement","year":2016,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":119,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"Medical Research Council; National Human Genome Research Institute; Oesterreichische Nationalbank; Agence Nationale de la Recherche; Austrian Science Fund; National Heart, Lung, and Blood Institute; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Wellcome Trust; University of Washington","keywords":"Locus (genetics); Missense mutation; Genetics; Ehlers–Danlos syndrome; Joint hypermobility; Medicine; Gene; Proband; Biology; Pathology; Anatomy; Mutation","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":[0.000118351,0.001064254,0.0003119876,0.0008078603,0.0005042064,0.0002289507,0.0002095122,0.0005428898,0.00259781],"category_scores_gemma":[0.0005786102,0.0002620798,0.0001795667,0.0006029705,0.0005924891,0.0001636912,0.0004490902,0.0002858268,0.0003978555],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000253467,"about_ca_system_score_gemma":0.0002716343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001081878,"about_ca_topic_score_gemma":0.001254097,"domain_scores_codex":[0.9997941,0.00003219788,0.00002237037,0.00007101198,0.00004518366,0.00003519125],"domain_scores_gemma":[0.9997874,0.00005816505,0.0001009014,0.00001178618,0.000009334834,0.00003244311],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002292484,0.0003670214,0.284126,0.001052859,0.0004175603,0.1875454,0.001906562,0.0008185042,0.3863932,0.003890576,0.003027747,0.1281623],"study_design_scores_gemma":[0.0004500189,0.0007655054,0.3679318,0.0002601409,0.0003458248,0.5668684,0.000607352,0.001184074,0.03719085,0.002064833,0.02225438,0.00007680355],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943521,0.001926865,0.001303048,0.0001352188,0.00001809955,0.00003032339,0.0002728376,0.00008127064,0.001880077],"genre_scores_gemma":[0.9952269,0.001509813,0.001276118,0.00009374386,0.00003174865,0.00002621187,0.0003836401,0.00001294488,0.001438919],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00259781,"threshold_uncertainty_score":0.008690536,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01979781642372344,"score_gpt":0.3109729752415101,"score_spread":0.2911751588177867,"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."}}