{"id":"W2273902070","doi":"10.3899/jrheum.141240","title":"<i>TNFRSF1A</i> Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an <i>MEFV E148Q</i> Variant","year":2015,"lang":"en","type":"letter","venue":"The Journal of Rheumatology","topic":"Inflammasome and immune disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Sultan Qaboos University","keywords":"Medicine; MEFV; Penetrance; Missense mutation; Mutation; Internal medicine; Population; Gene mutation; Gastroenterology; Genetics; Gene; Phenotype; Biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"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":[0.0006189729,0.001725937,0.001287105,0.0009769148,0.00117852,0.0007656282,0.001452753,0.003568616,0.002768157],"category_scores_gemma":[0.002999542,0.0007880173,0.0008696119,0.0005363704,0.00112556,0.001187663,0.0008404104,0.002783862,0.0006966987],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007196403,"about_ca_system_score_gemma":0.0003411599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001369291,"about_ca_topic_score_gemma":0.001595899,"domain_scores_codex":[0.9992579,0.0001076918,0.0001224578,0.0002442518,0.00009118419,0.0001765763],"domain_scores_gemma":[0.9985918,0.000526117,0.0002712717,0.00007081047,0.0001288676,0.0004110418],"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":[0.00006854781,0.00004160256,0.00808405,0.00005227081,0.00002075702,0.9879051,0.0002255481,0.0000312033,0.001423044,0.00009897485,0.001158501,0.0008903779],"study_design_scores_gemma":[0.00004051127,0.0001468682,0.01234403,0.00003791156,0.00003711632,0.9848622,0.0001740685,0.0003103544,0.0005644097,0.0001164613,0.001349721,0.00001641616],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.973075,0.003739299,0.001735068,0.01356171,0.002746472,0.0001819599,0.0003151668,0.0001476977,0.004497516],"genre_scores_gemma":[0.9895613,0.001126458,0.001053047,0.003261549,0.003091349,0.00003584445,0.0001229163,0.00003931835,0.001708151],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003568616,"threshold_uncertainty_score":0.009260416,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01319146675796286,"score_gpt":0.2336994772213011,"score_spread":0.2205080104633382,"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."}}