{"id":"W4377242178","doi":"10.1038/s41431-023-01387-9","title":"A novel genomic mutation in ADNP leading to intellectual disability","year":2023,"lang":"en","type":"letter","venue":"European Journal of Human Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Tel Aviv University; Canadian Friends of Tel Aviv University","keywords":"Genetics; Intellectual disability; Biology; Mutation; Computational biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000678102,0.001491551,0.001184363,0.001358109,0.002435494,0.00155093,0.002053484,0.02644309,0.004526422],"category_scores_gemma":[0.006421999,0.0004511506,0.00160861,0.001095235,0.002583685,0.001093308,0.001215559,0.007901675,0.001237471],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002087109,"about_ca_system_score_gemma":0.001363366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00339255,"about_ca_topic_score_gemma":0.003156523,"domain_scores_codex":[0.9991755,0.0001499845,0.00008599296,0.0001657814,0.0001665803,0.000256115],"domain_scores_gemma":[0.9965939,0.002070649,0.0002170712,0.0001112073,0.0002399651,0.0007671915],"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":[0.0001504413,0.00005526482,0.001422812,0.00003973468,0.00001972688,0.9819951,0.0001046427,0.0001123243,0.001017937,0.001646167,0.01138182,0.002054017],"study_design_scores_gemma":[0.0005195179,0.0004012414,0.008015989,0.0001584733,0.0001514068,0.9459105,0.0003719344,0.002777327,0.002378425,0.007950306,0.03129506,0.00006983051],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.3684177,0.00825958,0.004819129,0.4803959,0.03873625,0.0003415838,0.001758467,0.0005642372,0.09670724],"genre_scores_gemma":[0.8721493,0.001694598,0.002709877,0.07158672,0.03451139,0.00009790494,0.0003554185,0.0001212396,0.0167735],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.02644309,"threshold_uncertainty_score":0.01514316,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03424627910721489,"score_gpt":0.2679272450832189,"score_spread":0.233680965976004,"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."}}