{"id":"W2507602581","doi":"10.1002/art.39699","title":"Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases","year":2016,"lang":"en","type":"article","venue":"Arthritis & Rheumatology","topic":"Adenosine and Purinergic Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":171,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"Rosetrees Trust","keywords":"Asymptomatic; Genotype; Polyarteritis nodosa; Medicine; Internal medicine; Compound heterozygosity; Adenosine deaminase; Biology; Immunology; Disease; Genetics; Allele; Vasculitis; Gene; Adenosine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000102586,0.00009568287,0.0002235991,0.00007573436,0.00002012832,0.000002302669,0.00007728016,0.0001122718,0.0000426776],"category_scores_gemma":[0.0002339523,0.00007923466,0.00002678212,0.0001052464,0.0001690547,0.000006983054,0.00006531856,0.00003141575,0.000003554545],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004333489,"about_ca_system_score_gemma":0.00005437406,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002734952,"about_ca_topic_score_gemma":0.0002039426,"domain_scores_codex":[0.9992106,0.00005562997,0.0003021866,0.000206213,0.00005682877,0.0001685609],"domain_scores_gemma":[0.9995484,0.0000529044,0.0001105398,0.0001633279,0.00009043462,0.00003433386],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003912595,0.0001430406,0.3531038,0.00008121871,0.00002542283,0.00003772329,0.0001913138,0.000008247112,0.6245549,0.00228675,0.0009949667,0.01818127],"study_design_scores_gemma":[0.01093528,0.006864607,0.2676997,0.001656361,0.00007717549,0.003223704,0.0006043839,0.00005802669,0.6963435,0.004011613,0.007294625,0.001231026],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9695241,0.0297395,0.0004038129,0.00007176517,0.00006706395,0.00007467306,0.000011987,0.000004365375,0.0001026713],"genre_scores_gemma":[0.9941761,0.005318348,0.0004037723,0.00001997868,0.00001048189,0.000004393167,0.00001323557,0.00001069545,0.00004292598],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08540417,"threshold_uncertainty_score":0.3231096,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01217138511660513,"score_gpt":0.229656361544925,"score_spread":0.2174849764283199,"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."}}