{"id":"W2148358971","doi":"10.1111/cge.12471","title":"Autosomal dominant <i>IFIH1</i> gain‐of‐function mutations cause Aicardi–Goutières syndrome","year":2014,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"interferon and immune responses","field":"Immunology and Microbiology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Phenotype; Gain of function; Mutation; Genetics; Biology; Downregulation and upregulation; Gene","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":[0.0005195561,0.0007878547,0.0008663553,0.0006034824,0.001095546,0.0009511141,0.0007772315,0.009815071,0.00283906],"category_scores_gemma":[0.004757917,0.0003122101,0.0007749285,0.000313432,0.001111772,0.001000463,0.0003996942,0.007382981,0.002191031],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001736473,"about_ca_system_score_gemma":0.0005699818,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003042255,"about_ca_topic_score_gemma":0.002680618,"domain_scores_codex":[0.9995345,0.00009456688,0.00005461609,0.00008154538,0.0001331163,0.0001017087],"domain_scores_gemma":[0.9988237,0.0005617975,0.00007761416,0.00007340433,0.000255261,0.0002081657],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004623247,0.0002236844,0.01277605,0.0001449546,0.0000953486,0.4914347,0.0003993485,0.0005459103,0.004250512,0.005011098,0.4501128,0.03454326],"study_design_scores_gemma":[0.0005258681,0.0005309806,0.02392369,0.0005653728,0.0002182005,0.6719514,0.0007073626,0.004861257,0.004503049,0.01506953,0.2769704,0.0001728628],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.05741424,0.006454664,0.002455622,0.8615217,0.04052018,0.0001077809,0.0003223493,0.0004407254,0.03076288],"genre_scores_gemma":[0.5008107,0.009652195,0.003550771,0.3688786,0.07578254,0.0001261614,0.0002936849,0.0001590464,0.04074627],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.009815071,"threshold_uncertainty_score":0.01259911,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04324994856818417,"score_gpt":0.3185212970148734,"score_spread":0.2752713484466893,"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."}}