{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002128976,0.0003350003,0.0009676306,0.0001060172,0.00004166368,0.00003523754,0.0001042368,0.0001757968,0.0002620556],"category_scores_gemma":[0.0001892638,0.0001839096,0.0002182645,0.0005544012,0.0001314356,0.00006811402,0.00008992092,0.0003235173,0.00001048791],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001314491,"about_ca_system_score_gemma":0.000572676,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003671709,"about_ca_topic_score_gemma":0.0002209291,"domain_scores_codex":[0.9984547,0.0001365783,0.000563561,0.0004342263,0.0002065116,0.0002043679],"domain_scores_gemma":[0.9991134,0.000204296,0.0001678949,0.0003260646,0.0001036596,0.00008464587],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0001379727,0.0004903688,0.00008129657,0.21982,0.0004190754,0.0004574851,0.001262024,0.000001242091,0.00007252611,0.00002945614,0.0006180099,0.7766106],"study_design_scores_gemma":[0.0009465357,0.001912502,0.001688115,0.5921425,0.006729315,0.03107118,0.0001787232,0.00009758001,0.00004781321,0.0001032423,0.3641008,0.0009817126],"study_design_candidate":"systematic_review","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01968249,0.9752318,0.00000855145,0.00004560676,0.000101194,0.001262476,0.003620736,0.00001693332,0.00003018463],"genre_scores_gemma":[0.0008703695,0.9952834,0.0005738196,0.0001234475,0.00009751996,0.0002499726,0.002583624,0.00004361863,0.0001742455],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.7756288,"threshold_uncertainty_score":0.7499617,"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."}}