{"id":"W2940582390","doi":"10.1002/humu.23771","title":"Mutation update for the <i>SATB2</i> gene","year":2019,"lang":"en","type":"review","venue":"Human Mutation","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland","funders":"National Institute of Neurological Disorders and Stroke; Vlaamse regering","keywords":"Biology; Missense mutation; Genetics; Phenotype; Gene; Expansive; Genotype-phenotype distinction; Genotype; Mutation; Coding region","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":[0.0004475018,0.0005834367,0.0007954179,0.002769451,0.0002408125,0.0006173868,0.0009132213,0.001138024,0.006243312],"category_scores_gemma":[0.001036697,0.0001947067,0.0004898623,0.00142109,0.0003063567,0.001008178,0.0005487067,0.001487003,0.003475772],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004214248,"about_ca_system_score_gemma":0.0009303103,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007364482,"about_ca_topic_score_gemma":0.001318935,"domain_scores_codex":[0.9998336,0.0000274858,0.00004176082,0.00003167527,0.00004957835,0.00001598268],"domain_scores_gemma":[0.9994534,0.0002763081,0.00006801679,0.00001540839,0.0001383184,0.00004859374],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00008256135,0.00004367981,0.0003480488,0.0119527,0.0001132536,0.001796525,0.00006277068,0.0002541355,0.00280089,0.002712077,0.09772083,0.8821126],"study_design_scores_gemma":[0.0000117612,0.00005105099,0.0007136179,0.001950342,0.0001372375,0.008607617,0.00002874572,0.00005207233,0.0004403747,0.0007831858,0.9872099,0.00001407471],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000507177,0.9905846,0.0007788321,0.002148519,0.002237133,0.000012818,0.0001584239,0.00006065296,0.003511771],"genre_scores_gemma":[0.002680508,0.9885942,0.001590905,0.001836983,0.001661512,0.00001948193,0.0005230622,0.00001508437,0.003078277],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006243312,"threshold_uncertainty_score":0.020886,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06859265045054866,"score_gpt":0.3734589653260612,"score_spread":0.3048663148755125,"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."}}