{"id":"W2583539574","doi":"10.1111/cge.12982","title":"Genotype and phenotype in 12 additional individuals with <i><scp>SATB2</scp></i>‐associated syndrome","year":2017,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; McMaster University Medical Centre","funders":"","keywords":"Nonsense; Frameshift mutation; Phenotype; Genetics; Genotype; Missense mutation; Craniofacial; Genotype-phenotype distinction; Biology; Williams syndrome; Facial dysmorphism; Gene; Neuroscience","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":[0.0002663448,0.000179508,0.0002536513,0.00003028192,0.0001865744,0.00009297006,0.000336363,0.0002796341,0.00004666879],"category_scores_gemma":[0.0009205545,0.0001609053,0.00007760484,0.00003078614,0.0003389013,0.00000428289,0.0002790578,0.0001598414,0.00001940449],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007645545,"about_ca_system_score_gemma":0.0001629005,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007419714,"about_ca_topic_score_gemma":0.0001226866,"domain_scores_codex":[0.9986776,0.00007231078,0.0003511956,0.0004554142,0.0001469035,0.000296633],"domain_scores_gemma":[0.9988275,0.0001184847,0.0002398529,0.0005278602,0.00008410256,0.0002021559],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003700777,0.0004350984,0.9822572,0.00001894029,0.0002308373,0.0001044288,0.00003320689,0.00005657484,0.001324427,0.00005546269,0.01262937,0.002817401],"study_design_scores_gemma":[0.001199205,0.0005276118,0.9543233,0.00002915112,0.0000413233,0.00002485226,0.00002537552,0.00004149423,0.0001976055,0.0003616141,0.04310051,0.0001279512],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966894,0.0009415497,0.00001779172,0.00006848181,0.000151406,0.0001730888,0.0008141551,0.000007828473,0.001136234],"genre_scores_gemma":[0.9955274,0.001011315,0.001457303,0.0004397044,0.0001558254,0.00001803613,0.0008136918,0.00003217177,0.0005444866],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03047114,"threshold_uncertainty_score":0.6561528,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02447184986230884,"score_gpt":0.2953408128515052,"score_spread":0.2708689629891963,"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."}}