{"id":"W2042460778","doi":"10.1159/000335648","title":"Update on Kleefstra Syndrome","year":2011,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":179,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"ZonMw","keywords":"Hypotonia; Intellectual disability; Phenotype; Medicine; Genetics; Microdeletion syndrome; Bioinformatics; Pediatrics; Gene; Biology; Psychiatry","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":[0.001109047,0.001112549,0.00218512,0.003936191,0.0005682313,0.001659423,0.00165839,0.004564326,0.004589104],"category_scores_gemma":[0.003698051,0.0005010883,0.000660778,0.002506618,0.0009046221,0.003152007,0.001051695,0.004891961,0.003350017],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000945152,"about_ca_system_score_gemma":0.0009886407,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001953003,"about_ca_topic_score_gemma":0.004982882,"domain_scores_codex":[0.9993248,0.0001292529,0.0001571668,0.0001106341,0.0001902939,0.00008791927],"domain_scores_gemma":[0.9969388,0.00138514,0.000241248,0.00007526364,0.0009391049,0.0004203918],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.0001728672,0.00008884914,0.001953027,0.003688234,0.0001213181,0.008917496,0.0001402055,0.0003747981,0.0009242899,0.001908316,0.389463,0.5922475],"study_design_scores_gemma":[0.00003366887,0.00009130467,0.001712386,0.002753713,0.0001247109,0.02474596,0.0001415147,0.0001089699,0.0001909832,0.001209794,0.9688553,0.0000317508],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.001710662,0.9423091,0.000941646,0.02301713,0.02337563,0.00002724832,0.0001825763,0.0001032733,0.008332665],"genre_scores_gemma":[0.006590934,0.905809,0.001353647,0.02275178,0.05537568,0.00004282248,0.0004449539,0.00003773546,0.007593457],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.004589104,"threshold_uncertainty_score":0.01535213,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01242051959825337,"score_gpt":0.2007982887415244,"score_spread":0.188377769143271,"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."}}