{"id":"W3014464898","doi":"10.1093/rheumatology/keaa119","title":"New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation","year":2020,"lang":"en","type":"article","venue":"Lara D. Veeken","topic":"Osteomyelitis and Bone Disorders Research","field":"Medicine","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Anakinra; Medicine; Interleukin 1 receptor antagonist; Canakinumab; Inflammation; Exome sequencing; Internal medicine; Gastroenterology; Receptor antagonist; Antagonist; Receptor; Phenotype; Gene; Genetics","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":[0.0001828784,0.001712147,0.0006159099,0.0007396631,0.0006378985,0.0005061884,0.0006108441,0.001564091,0.002153666],"category_scores_gemma":[0.001282792,0.0002529074,0.0005197391,0.0007073245,0.0007083815,0.0002907354,0.0005580611,0.0008234045,0.0004818793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002754771,"about_ca_system_score_gemma":0.0002885027,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008055054,"about_ca_topic_score_gemma":0.001062175,"domain_scores_codex":[0.9996572,0.0000403439,0.00002765974,0.0001486513,0.00004835307,0.00007787824],"domain_scores_gemma":[0.9991498,0.0002226337,0.0003468863,0.00003783024,0.00004621195,0.0001966398],"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":[0.0004320268,0.0001165094,0.05545168,0.0001888819,0.00006891733,0.8992547,0.0003571699,0.0002959752,0.03778817,0.000480239,0.0009200795,0.004645749],"study_design_scores_gemma":[0.00003896388,0.0001973538,0.0380582,0.00004180377,0.00005596215,0.9570879,0.0001125351,0.0004096776,0.002284697,0.0001981876,0.001498028,0.00001666357],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916414,0.002061327,0.002482105,0.0005790987,0.00009905523,0.00005989674,0.000579947,0.0001244004,0.002372789],"genre_scores_gemma":[0.9969189,0.0003405918,0.001507027,0.0002072801,0.0001559889,0.00001329855,0.0002890281,0.0000293986,0.0005384283],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002153666,"threshold_uncertainty_score":0.007204711,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03320558325809916,"score_gpt":0.2914945617156238,"score_spread":0.2582889784575246,"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."}}