{"id":"W7075702304","doi":"","title":"TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features","year":2016,"lang":"en","type":"article","venue":"Oxford University Research Archive (ORA) (University of Oxford)","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Cilag; Eisai; CHU Sainte-Justine Foundation; National Health and Medical Research Council; Sanofi; European Commission; Belgian American Educational Foundation; Wellcome Trust; Canadian Institutes of Health Research; National Institute for Health and Care Research; Medical Research Council; Health Research Council of New Zealand; March of Dimes Foundation","keywords":"Epilepsy; Myoclonic epilepsy; Neuroimaging; Encephalopathy; Mutation; Medical diagnosis","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002372624,0.0007047682,0.000404831,0.0009605208,0.0002887361,0.0003072942,0.000189981,0.0003646724,0.003632698],"category_scores_gemma":[0.00147925,0.0001273899,0.0002237626,0.0004937921,0.0002597297,0.0002213814,0.0002711714,0.0002725982,0.0004480575],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000150881,"about_ca_system_score_gemma":0.0001688629,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005956139,"about_ca_topic_score_gemma":0.0005363548,"domain_scores_codex":[0.9997662,0.00003619428,0.00003601365,0.00008036219,0.00004156099,0.00003971155],"domain_scores_gemma":[0.9992747,0.0002451642,0.0002459351,0.00003980878,0.0000744305,0.0001199445],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005662608,0.00006853821,0.967563,0.00005422067,0.0000871721,0.01229886,0.0001325262,0.0002595095,0.0119732,0.00004904473,0.0002210583,0.00672648],"study_design_scores_gemma":[0.00004201607,0.0003155713,0.9222647,0.00002280549,0.00007787071,0.07324469,0.0001397337,0.0003788333,0.002796447,0.00007668231,0.0006279409,0.00001264014],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991123,0.0001521061,0.000128777,0.0000218757,0.000001781395,0.000009678329,0.0002427186,0.000005958133,0.0003248067],"genre_scores_gemma":[0.999364,0.0000542059,0.0001674782,0.00001838678,0.000008626404,0.000008685028,0.000266406,0.000004758005,0.0001075742],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003632698,"threshold_uncertainty_score":0.01215255,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02889911367543661,"score_gpt":0.2579475301983354,"score_spread":0.2290484165228988,"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."}}