{"id":"W2145444835","doi":"10.3389/fimmu.2013.00515","title":"An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2","year":2014,"lang":"en","type":"article","venue":"Frontiers in Immunology","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"Vetenskapsrådet; Stockholms Läns Landsting; European Commission; Karolinska Institutet; Stiftelsen för Strategisk Forskning; Swedish Cancer Foundation; Histiocytosis Association","keywords":"Syntaxin 3; Missense mutation; Mutation; Syntaxin; Mutant; Genetics; Biology; Molecular biology; Exocytosis; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006690901,0.0001638013,0.0006939259,0.001047232,0.0000440226,0.000008789384,0.0001804966,0.0001933911,0.00007557419],"category_scores_gemma":[0.0005195425,0.0001592332,0.00006056726,0.0004574607,0.0002283717,0.0001491348,0.00005422992,0.0003224386,0.00002696601],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000171537,"about_ca_system_score_gemma":0.0001395383,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000493791,"about_ca_topic_score_gemma":0.0001715309,"domain_scores_codex":[0.9982076,0.0003333564,0.0005732192,0.0002922858,0.0001804125,0.0004131426],"domain_scores_gemma":[0.9992498,0.00009342327,0.0001372612,0.0003598483,0.00009906918,0.00006059558],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004029522,0.0008268755,0.6812589,0.0002969232,0.0002652688,0.0008199131,0.01944697,0.0002786741,0.1939601,0.0008020232,0.001501865,0.09651294],"study_design_scores_gemma":[0.011042,0.004109161,0.8608112,0.0008788861,0.00007572435,0.0003057915,0.03833778,0.006525705,0.06932838,0.001186543,0.006741214,0.0006575971],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962854,0.0005597683,0.001407969,0.0003122146,0.0003217816,0.0004922915,0.000003530658,0.00002363717,0.00059343],"genre_scores_gemma":[0.9958974,0.00007202846,0.003518582,0.00007000168,0.00002059985,0.00005164244,0.00003904176,0.00002322549,0.0003074446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1795523,"threshold_uncertainty_score":0.6493343,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01157652482311643,"score_gpt":0.2953402502104496,"score_spread":0.2837637253873332,"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."}}