{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003347322,0.0002516845,0.0003603108,0.00006162548,0.0001951172,0.00005756841,0.0002127512,0.0002941728,0.00001388403],"category_scores_gemma":[0.00006221125,0.0001891335,0.0003266703,0.0000820492,0.00003527275,0.000004183999,0.00004409744,0.00009624266,0.0000584614],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002851396,"about_ca_system_score_gemma":0.0001103157,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000500442,"about_ca_topic_score_gemma":0.0000140802,"domain_scores_codex":[0.9987608,0.00009810139,0.0004243579,0.0004005994,0.0001357895,0.0001803148],"domain_scores_gemma":[0.9989176,0.0000651926,0.0004122281,0.0004295793,0.0001436413,0.00003171591],"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":[0.000008354345,0.00002805688,0.000001292529,0.002277568,0.0001764232,0.000001075908,0.00003361073,0.0001986627,0.001970827,0.0003466282,0.0007040578,0.9942535],"study_design_scores_gemma":[0.0002413863,0.0001582282,0.000009649867,0.0001866099,0.0005727938,0.000005778808,0.000007400367,0.0000541949,0.002265687,0.0003533832,0.9958958,0.0002490759],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002841251,0.9814775,0.01614345,0.00001560517,0.0003602635,0.001414282,0.00008361952,0.0000123284,0.0002088344],"genre_scores_gemma":[0.0008469863,0.9881635,0.0005532737,0.00005228991,0.0006833962,0.0003255475,0.008513574,0.00007280802,0.0007886124],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9951918,"threshold_uncertainty_score":0.7712638,"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."}}