{"id":"W2164450207","doi":"10.1002/art.10509","title":"Association of mutations in the <i>NALP3/CIAS1/PYPAF1</i> gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis","year":2002,"lang":"en","type":"article","venue":"Arthritis & Rheumatism","topic":"Inflammasome and immune disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":374,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Family history; Genetics; Compound heterozygosity; Dermatology; Internal medicine; Gene; Phenotype; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001752163,0.001120697,0.0003014785,0.000854664,0.001276568,0.0003172616,0.0004124032,0.0006264008,0.003919125],"category_scores_gemma":[0.0006685813,0.0002149736,0.0003441413,0.0008807019,0.0007502993,0.0001049626,0.0003129775,0.0003653998,0.0002364792],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009770395,"about_ca_system_score_gemma":0.001134915,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.116581,"about_ca_topic_score_gemma":0.1293294,"domain_scores_codex":[0.9997334,0.0000257913,0.00001796122,0.00006404916,0.00007290485,0.00008587309],"domain_scores_gemma":[0.9996473,0.00007098098,0.0000981356,0.00001236102,0.00005386174,0.000117321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001825672,0.0003061733,0.7757261,0.0002436401,0.0004888273,0.1051666,0.00223004,0.0005090145,0.09436521,0.000626017,0.002227165,0.01628556],"study_design_scores_gemma":[0.0001170456,0.0002500658,0.8956071,0.00005842751,0.0002449669,0.09579196,0.0005718106,0.0005368873,0.004248417,0.00009598422,0.002448861,0.00002842932],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977052,0.0002535669,0.000160959,0.00009012198,0.000008151153,0.00001613058,0.0001664223,0.00001845243,0.001580982],"genre_scores_gemma":[0.9991906,0.0000858236,0.0001645534,0.0000490024,0.00001488757,0.000004409699,0.000118322,0.000004515261,0.0003678651],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.116581,"threshold_uncertainty_score":0.2318048,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009880114101742004,"score_gpt":0.2146785582802718,"score_spread":0.2047984441785298,"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."}}