{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001348398,0.0005130368,0.0002162107,0.000250935,0.0002699829,0.0001682818,0.0002226931,0.0006338693,0.0017435],"category_scores_gemma":[0.0002949743,0.0001413369,0.0002742938,0.0001271131,0.0004862297,0.00008986827,0.0002855375,0.0004207206,0.0003799727],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003843536,"about_ca_system_score_gemma":0.0002530224,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001293157,"about_ca_topic_score_gemma":0.001320561,"domain_scores_codex":[0.9998568,0.00003468996,0.00002109228,0.00002739633,0.00003661737,0.00002339144],"domain_scores_gemma":[0.9998145,0.00008599413,0.00004069885,0.00001341284,0.00001005586,0.00003547431],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002683677,0.00008086472,0.00298468,0.00004073869,0.00003107019,0.0125242,0.00008202528,0.0003302898,0.9793746,0.0002413516,0.0001834475,0.003858335],"study_design_scores_gemma":[0.0003063756,0.0009432714,0.04133403,0.00003972593,0.0001126284,0.04176852,0.0001930553,0.004647713,0.9056231,0.0002570106,0.00473702,0.00003754446],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979501,0.0001229632,0.001033821,0.00007271375,0.00001962806,0.00001731607,0.0001155714,0.00003640682,0.0006314641],"genre_scores_gemma":[0.9983892,0.00008342203,0.0006422739,0.00004972533,0.000007077286,0.00001021796,0.0001123071,0.00001137506,0.0006945239],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0017435,"threshold_uncertainty_score":0.005832553,"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."}}