{"id":"W4389347366","doi":"10.3390/genes14122179","title":"STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions","year":2023,"lang":"en","type":"article","venue":"Genes","topic":"Connexins and lens biology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Personalized medicine; Medicine; Bioinformatics; Presentation (obstetrics); Biology","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":[0.00008768518,0.0001108867,0.0001060654,0.00004638879,0.0001127602,0.0000134637,0.00004725001,0.000167938,0.00004317294],"category_scores_gemma":[0.0000202116,0.0000940032,0.00008559533,0.0001520602,0.00007692139,0.000002536936,0.00004516623,0.0000385784,0.00003042171],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003690252,"about_ca_system_score_gemma":0.00002816039,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002671328,"about_ca_topic_score_gemma":0.0001712626,"domain_scores_codex":[0.9992309,0.00009160785,0.0001718575,0.0003190902,0.00003203384,0.0001544693],"domain_scores_gemma":[0.999642,0.0000160402,0.00004034052,0.0002054309,0.00003804077,0.00005816961],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001615644,0.0001877114,0.1158369,0.00001331484,0.0006486732,0.000009355226,0.0001393822,0.00004427649,0.1415623,0.0009156449,0.006664176,0.7338167],"study_design_scores_gemma":[0.0005899475,0.000476286,0.05933948,0.000001119508,0.00004303503,0.000009884027,0.0001675643,0.00003574814,0.001834468,0.0003603001,0.9370187,0.0001234806],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906346,0.006565389,0.0001173641,0.001219225,0.0006460582,0.000151687,0.00001931087,0.00005764021,0.0005887886],"genre_scores_gemma":[0.9543955,0.04034112,0.00007606813,0.0001948891,0.0008874658,0.00006607083,0.0006307538,0.0000259681,0.003382174],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9303545,"threshold_uncertainty_score":0.383334,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01380402138932379,"score_gpt":0.3031421729779344,"score_spread":0.2893381515886106,"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."}}