{"id":"W2062811638","doi":"10.1002/ajmg.a.20496","title":"GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":186,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke","keywords":"Williams syndrome; Haploinsufficiency; Supravalvular aortic stenosis; Phenotype; Genetics; Biology; Gene; Psychology; Cognition; Medicine; Neuroscience; Internal medicine; Stenosis","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":[0.000177441,0.001077414,0.0004264013,0.001454971,0.0006640918,0.0002927408,0.0002872624,0.0003363746,0.00187866],"category_scores_gemma":[0.000914805,0.0002958894,0.0005121866,0.000611741,0.0007543086,0.0001137621,0.000543763,0.0002203434,0.0001342274],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004013637,"about_ca_system_score_gemma":0.000198728,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00670851,"about_ca_topic_score_gemma":0.005073902,"domain_scores_codex":[0.9996444,0.00007139082,0.00004067718,0.0001063361,0.00006930107,0.00006784203],"domain_scores_gemma":[0.9997035,0.0001015788,0.00006328374,0.0000176137,0.00002490778,0.00008914537],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002063425,0.0007437944,0.6378862,0.0001558435,0.0008271242,0.09665635,0.00638474,0.001787167,0.2331494,0.0009930475,0.0004969499,0.0188561],"study_design_scores_gemma":[0.000128109,0.00110241,0.9154105,0.00003758814,0.0003808795,0.06338277,0.0009856565,0.001660529,0.01519944,0.0001695497,0.001491984,0.00005071784],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995366,0.00003940812,0.0001457178,0.00000816115,0.000001524008,0.000006287861,0.00005148589,0.000004534019,0.0002062805],"genre_scores_gemma":[0.9995442,0.00004398775,0.0001701945,0.000009548113,0.000002421026,0.000007402744,0.00009340537,0.000003496582,0.0001253998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00670851,"threshold_uncertainty_score":0.01333892,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02574784128460714,"score_gpt":0.2997816988951309,"score_spread":0.2740338576105238,"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."}}