{"id":"W3016141468","doi":"10.1002/epi4.12396","title":"Epilepsy phenotype in individuals with chromosomal duplication encompassing <i>FGF12</i>","year":2020,"lang":"en","type":"article","venue":"Epilepsia Open","topic":"Fibroblast Growth Factor Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Gene duplication; Phenotype; Hypotonia; Genetics; Biology; Epilepsy; Mutation; Ataxia; 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":[0.0002276888,0.0001888096,0.0002323767,0.00004482888,0.00008293844,0.0001616093,0.000843724,0.0001214332,0.0001751423],"category_scores_gemma":[0.0001032468,0.000171848,0.00003679956,0.0003364661,0.00009080336,0.00002688857,0.0006191416,0.0002173241,0.0001336479],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002841923,"about_ca_system_score_gemma":0.0001993933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008256669,"about_ca_topic_score_gemma":0.00005896624,"domain_scores_codex":[0.9983955,0.000132167,0.0002583488,0.0005910216,0.0002465904,0.0003763851],"domain_scores_gemma":[0.9992338,0.00002352706,0.00009471172,0.0004026542,0.00005840464,0.0001868553],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003149056,0.0001354717,0.4994197,0.00005184234,0.00006293787,0.00001606027,0.0004415442,0.0002114081,0.4871139,0.000347945,0.009331335,0.00255297],"study_design_scores_gemma":[0.003906749,0.00165329,0.5947779,0.0001275135,0.00001991157,0.00002227393,0.0002173391,0.0005086463,0.261186,0.000125097,0.1366482,0.0008070625],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9875603,0.000115938,0.000697888,0.002806494,0.00002965571,0.0008747972,0.00003195077,0.00002077385,0.007862156],"genre_scores_gemma":[0.9949807,0.00001605695,0.003348518,0.0009675774,0.0001839727,0.0001126877,0.000232582,0.00004391575,0.0001140212],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2259279,"threshold_uncertainty_score":0.7007759,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0259794740728429,"score_gpt":0.2904879763593015,"score_spread":0.2645085022864586,"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."}}