{"id":"W1990817138","doi":"10.1002/pbc.22676","title":"Unusual functional manifestations of a novel <i>STX11</i> frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)","year":2010,"lang":"en","type":"article","venue":"Pediatric Blood & Cancer","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; Hospital for Sick Children","funders":"Svenska Sällskapet för Medicinsk Forskning","keywords":"Frameshift mutation; Hemophagocytic lymphohistiocytosis; Degranulation; Medicine; Immunology; Immune system; Mutation; Cytotoxicity; Genetics; Disease; Gene; Biology; Internal medicine; In vitro","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":[0.0003108193,0.001334155,0.0005804023,0.001189734,0.0006197769,0.0006294664,0.0005960211,0.001816435,0.001171254],"category_scores_gemma":[0.002008048,0.0007102466,0.000646163,0.0003661788,0.001035726,0.0004868692,0.001041273,0.001233804,0.0002960531],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000455314,"about_ca_system_score_gemma":0.0002616018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001253324,"about_ca_topic_score_gemma":0.0009308499,"domain_scores_codex":[0.9995512,0.00007025158,0.00005544372,0.000109852,0.00007553041,0.0001376714],"domain_scores_gemma":[0.9990721,0.0002788781,0.0002779037,0.0000404382,0.00004419146,0.0002865329],"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":[0.0001632626,0.00006653698,0.02537168,0.00005278242,0.00002252213,0.9550511,0.0007884101,0.000126945,0.01594189,0.0002004212,0.0001856501,0.002028789],"study_design_scores_gemma":[0.00002525687,0.0002358663,0.04654559,0.00001215261,0.0000368037,0.948056,0.0002098921,0.0003225725,0.003989046,0.00008749955,0.0004585465,0.00002080196],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979193,0.0001872312,0.0005951489,0.0001200034,0.00003053855,0.00002797979,0.00006760003,0.00004146511,0.001010871],"genre_scores_gemma":[0.9986892,0.0001182353,0.0006421496,0.00009367645,0.00003326471,0.00001405387,0.00006277029,0.00001476556,0.0003319317],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001816435,"threshold_uncertainty_score":0.003918231,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01718929540101955,"score_gpt":0.3075530194718435,"score_spread":0.290363724070824,"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."}}