{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002357116,0.0008004374,0.0005165184,0.001264168,0.0006866951,0.000511439,0.0004993808,0.0006052569,0.001285106],"category_scores_gemma":[0.001272309,0.0004846224,0.0004111822,0.0008467613,0.0005936213,0.0002542982,0.000592701,0.0002834547,0.0004326614],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003075043,"about_ca_system_score_gemma":0.0002848733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001861915,"about_ca_topic_score_gemma":0.00148202,"domain_scores_codex":[0.9995661,0.00005159436,0.00007363116,0.0001379534,0.00006705695,0.0001035441],"domain_scores_gemma":[0.999387,0.0001199727,0.0001604236,0.00004757141,0.00004591568,0.0002390133],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0002585838,0.0001907663,0.8830631,0.00006362563,0.00007041077,0.09678292,0.001173011,0.0002784752,0.005722608,0.00008529564,0.0003646477,0.0119465],"study_design_scores_gemma":[0.0000536058,0.0007604578,0.6896179,0.00004039843,0.00006964742,0.3054749,0.0008143786,0.0006180049,0.001203804,0.0001275822,0.001182792,0.00003649812],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989159,0.0003056481,0.0002983079,0.0000182017,0.000005172064,0.00001763985,0.0000670458,0.00001583646,0.0003562357],"genre_scores_gemma":[0.9992006,0.000162703,0.0002862155,0.00002165537,0.00001209278,0.00001544203,0.0001507508,0.000006570472,0.0001438818],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001861915,"threshold_uncertainty_score":0.004299104,"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."}}