{"id":"W4399969456","doi":"10.3390/genes15070826","title":"De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature","year":2024,"lang":"en","type":"review","venue":"Genes","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; London Health Sciences Centre","funders":"","keywords":"Intellectual disability; Gene; Genetics; Biology; Medicine","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":[0.000251748,0.0009598772,0.001021965,0.002471805,0.0004350643,0.0007435236,0.000708035,0.001408853,0.001699625],"category_scores_gemma":[0.0008127546,0.0003313219,0.0005184915,0.001218998,0.0005500866,0.0007492765,0.0003498336,0.0006398378,0.0009030874],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004107072,"about_ca_system_score_gemma":0.0004656647,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001002108,"about_ca_topic_score_gemma":0.001209859,"domain_scores_codex":[0.9996862,0.0000245419,0.0001080502,0.00008618901,0.00005666084,0.00003840993],"domain_scores_gemma":[0.9997072,0.000125476,0.00007010626,0.00001432688,0.00003879385,0.00004404573],"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":[0.00009151002,0.00006797011,0.008680403,0.002825756,0.0002186342,0.8930185,0.0003791954,0.0002370171,0.008689822,0.0004191509,0.006026713,0.07934529],"study_design_scores_gemma":[0.00001062137,0.00004630639,0.00897117,0.0005628959,0.0001806193,0.9633657,0.0001731262,0.0001435743,0.001202521,0.0003767439,0.02493791,0.0000287546],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.2724987,0.6825831,0.009513281,0.006847294,0.00214238,0.0002971886,0.001112515,0.0004606337,0.02454493],"genre_scores_gemma":[0.5840574,0.3907419,0.005819312,0.00505565,0.004021459,0.0001116599,0.001575034,0.0000929052,0.008524786],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002471805,"threshold_uncertainty_score":0.005685806,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0265476716517348,"score_gpt":0.2828514773143204,"score_spread":0.2563038056625856,"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."}}