{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001462789,0.001105338,0.0003273945,0.0009884791,0.000613817,0.0002361027,0.000163626,0.0006194627,0.002293007],"category_scores_gemma":[0.0007502743,0.0002436683,0.000337892,0.0004156826,0.0005541425,0.0001957436,0.0004324325,0.0003648275,0.0003085157],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001863059,"about_ca_system_score_gemma":0.0001355402,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001464547,"about_ca_topic_score_gemma":0.001336755,"domain_scores_codex":[0.9998482,0.00002180492,0.00001714657,0.00005177516,0.00001990126,0.00004102942],"domain_scores_gemma":[0.9997798,0.00007135059,0.00006452612,0.00001561154,0.00001562292,0.00005316812],"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":[0.001118659,0.0002325979,0.3313478,0.00009552469,0.0001511362,0.537948,0.002396715,0.0004242812,0.1099877,0.0005887657,0.0007444464,0.01496439],"study_design_scores_gemma":[0.00007730598,0.001070439,0.3533332,0.00003814236,0.000164727,0.632826,0.0007654576,0.0005048762,0.009542141,0.0003056435,0.001329159,0.00004287071],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986134,0.00007989072,0.0003159125,0.00006950757,0.000007752174,0.00001043652,0.0000515211,0.00002051441,0.0008310047],"genre_scores_gemma":[0.9995025,0.00003805057,0.0001451587,0.00003464726,0.00001100678,0.000004175286,0.00003625797,0.000005025111,0.0002231999],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002293007,"threshold_uncertainty_score":0.007670939,"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."}}