{"id":"W2789889033","doi":"10.1016/j.clim.2018.03.012","title":"Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3","year":2018,"lang":"en","type":"article","venue":"Clinical Immunology","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Ministry of Health, British Columbia","keywords":"Hemophagocytic lymphohistiocytosis; Gene duplication; Gene; Biology; Genetics; Mutation; Medicine; Disease","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.0001938169,0.001124449,0.0005351208,0.001449803,0.001033829,0.0006420176,0.000903792,0.002261728,0.001873067],"category_scores_gemma":[0.001854093,0.000454243,0.0006621078,0.0008626057,0.00103521,0.0004724028,0.0008089326,0.000908478,0.0004035415],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006224319,"about_ca_system_score_gemma":0.0004720013,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001537889,"about_ca_topic_score_gemma":0.001010979,"domain_scores_codex":[0.9996587,0.00003102332,0.00005150445,0.0001201296,0.0000607856,0.00007785683],"domain_scores_gemma":[0.9989503,0.0005719305,0.0001312006,0.00005043913,0.00006597508,0.0002301198],"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":[0.0001194563,0.00002836086,0.01726824,0.00002229303,0.00001243667,0.9654238,0.0002661089,0.0001911827,0.01476627,0.0001438131,0.0001526668,0.001605378],"study_design_scores_gemma":[0.00003443,0.0001276292,0.03097115,0.00001881439,0.00005087483,0.9588659,0.0002838374,0.00107395,0.007506476,0.0002468165,0.0007995778,0.00002041103],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996744,0.0003175731,0.000947201,0.0004365052,0.00004090933,0.00002395898,0.0001841763,0.00003832374,0.001267267],"genre_scores_gemma":[0.9990157,0.00008210814,0.0004698878,0.00009901593,0.00003738078,0.000005807419,0.00006614036,0.00001081456,0.0002131959],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002261728,"threshold_uncertainty_score":0.006266057,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03036542723341886,"score_gpt":0.3471965064567237,"score_spread":0.3168310792233048,"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."}}