{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002323097,0.001595013,0.0005066654,0.001197764,0.0009366089,0.0006169092,0.0003988761,0.0010069,0.002066718],"category_scores_gemma":[0.002320628,0.0005381269,0.0006334368,0.0005824643,0.000756842,0.0003181688,0.0007115873,0.0007339844,0.0003851301],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003265098,"about_ca_system_score_gemma":0.0002202207,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002994048,"about_ca_topic_score_gemma":0.002240523,"domain_scores_codex":[0.9995813,0.00006155128,0.00006616222,0.0001342717,0.0000731773,0.00008357222],"domain_scores_gemma":[0.9992419,0.0002426682,0.0001491114,0.0000815481,0.00007140844,0.0002133829],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006013801,0.0004135991,0.3654344,0.00008123449,0.0001466977,0.5763752,0.004564075,0.0007696817,0.02737244,0.0004272056,0.001012561,0.02280167],"study_design_scores_gemma":[0.00008477258,0.001309614,0.2999949,0.00003394752,0.0001155503,0.6904694,0.0009152642,0.0009198161,0.003445354,0.0003952352,0.002241991,0.00007417635],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981818,0.00009524207,0.0005688013,0.00008986792,0.00002476211,0.00002245347,0.0001025479,0.00002696835,0.0008875827],"genre_scores_gemma":[0.9983215,0.00008436891,0.0007581342,0.00009739358,0.00003308518,0.00001484594,0.0001321067,0.00001744634,0.0005410757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002994048,"threshold_uncertainty_score":0.0069139,"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."}}