{"id":"W3180519773","doi":"10.1007/s10048-021-00655-4","title":"ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants","year":2021,"lang":"en","type":"article","venue":"Neurogenetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary; Alberta Health Services","funders":"Universitätsklinikum Hamburg-Eppendorf; Werner Otto Stiftung; Deutsche Forschungsgemeinschaft","keywords":"Phenotype; Frameshift mutation; Genetics; Loss function; Biology; Nonsense; Missense mutation; Compound heterozygosity; Neurodevelopmental disorder; Autism spectrum disorder; Gene isoform; Autism; Gene; 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":[0.0001569915,0.001019291,0.0003551521,0.001056038,0.0005040298,0.000231459,0.0002930754,0.0003710073,0.002278767],"category_scores_gemma":[0.0003665043,0.0001308374,0.0002245148,0.000396658,0.0006350729,0.0002485003,0.0007375122,0.0003571991,0.0003338417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001609149,"about_ca_system_score_gemma":0.0002118971,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009209711,"about_ca_topic_score_gemma":0.001208094,"domain_scores_codex":[0.999827,0.00002043048,0.00002448676,0.00006406444,0.00003593713,0.00002809446],"domain_scores_gemma":[0.9998437,0.00005049979,0.00004162352,0.0000152107,0.00001750213,0.00003148839],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006596345,0.0001610196,0.1352615,0.000157684,0.00009735396,0.1566367,0.001902133,0.0007494892,0.6568662,0.002394118,0.0006642558,0.04444994],"study_design_scores_gemma":[0.00005716796,0.0004845667,0.375788,0.00008955243,0.0002236633,0.5207726,0.0008029338,0.001347742,0.09221004,0.002320972,0.005836972,0.00006571997],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947984,0.0004384884,0.002143867,0.0000844164,0.000007524898,0.00001603509,0.0002327759,0.00005281217,0.002225634],"genre_scores_gemma":[0.9971159,0.0002961942,0.001768932,0.00004118334,0.00001154582,0.00001104492,0.0001415397,0.00002047181,0.0005932587],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002278767,"threshold_uncertainty_score":0.007623255,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008776738775813222,"score_gpt":0.2327566949505715,"score_spread":0.2239799561747583,"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."}}