{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004392511,0.00009708745,0.00009196455,0.00002348682,0.00005197882,0.00001040718,0.0001055042,0.00006330856,0.00004013803],"category_scores_gemma":[0.00005724398,0.00008485897,0.00008497637,0.0001432786,0.00007955525,0.000002427774,0.00009284499,0.00004761918,0.000002595422],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003496945,"about_ca_system_score_gemma":0.00007594894,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001999111,"about_ca_topic_score_gemma":0.000007171813,"domain_scores_codex":[0.9992177,0.00007647119,0.0002370276,0.0002110651,0.0001345082,0.0001232056],"domain_scores_gemma":[0.9994828,0.00001134267,0.0001081228,0.0003048606,0.00004626505,0.00004660455],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001010448,0.0001696311,0.06261446,0.00002456101,0.00006800133,0.00001521887,0.00005681918,0.001099555,0.9333516,0.0002290694,0.0002543668,0.002015637],"study_design_scores_gemma":[0.0009737015,0.0002892638,0.3893339,0.0000122269,0.00006423023,0.00008973471,0.00007658366,0.0003083405,0.6042303,0.0005759696,0.00386574,0.0001800047],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997795,0.000573872,0.0005727476,0.0001663652,0.0002851604,0.00009068622,0.00001316689,0.000006598419,0.0004964059],"genre_scores_gemma":[0.999081,0.0003507622,0.0001080035,0.0001593238,0.00003253934,0.000002825544,0.00005503855,0.00001713443,0.0001933755],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3291214,"threshold_uncertainty_score":0.3460448,"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."}}