{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005952405,0.0005722547,0.0008559663,0.0008713271,0.0003185673,0.0009052606,0.0003880147,0.001156601,0.001945608],"category_scores_gemma":[0.0005724345,0.0001335365,0.000458221,0.0006633404,0.0005494009,0.001231893,0.0004200874,0.001496474,0.0005535371],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006828611,"about_ca_system_score_gemma":0.0007376468,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007189661,"about_ca_topic_score_gemma":0.001718487,"domain_scores_codex":[0.9998461,0.00003196967,0.0000363705,0.00002780611,0.00003435561,0.00002344465],"domain_scores_gemma":[0.9997403,0.0001166715,0.00005034657,0.000006814862,0.00004617559,0.00003983106],"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":[0.0006945042,0.0002718328,0.007627066,0.00817025,0.0001537227,0.00658179,0.0002340986,0.0007092558,0.01081587,0.01320327,0.02560049,0.9259378],"study_design_scores_gemma":[0.0002447455,0.001223478,0.02589386,0.01274219,0.0007652408,0.09768011,0.001235392,0.00192436,0.006408816,0.0375527,0.8141718,0.0001572666],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002219814,0.9913847,0.0005586564,0.004151735,0.0002015998,0.000007532736,0.00003365048,0.00001794846,0.001424221],"genre_scores_gemma":[0.01241154,0.9826425,0.001753387,0.001153643,0.001164243,0.00001885114,0.0001189742,0.000005378331,0.0007315004],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.001945608,"threshold_uncertainty_score":0.006508708,"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."}}