{"id":"W4220777889","doi":"10.3390/genes13030470","title":"Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; University of British Columbia; Hospital for Sick Children; SickKids Foundation; University of Toronto; BC Children's Hospital; Autism Canada","funders":"Genome British Columbia","keywords":"Strabismus; Autism spectrum disorder; Epilepsy; Autism; Medicine; Genetics; Biology; Psychiatry; Ophthalmology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002801653,0.001913128,0.000777306,0.001962708,0.001785086,0.0008214203,0.0008560197,0.003547046,0.002054476],"category_scores_gemma":[0.001681933,0.0004927902,0.0006707464,0.0007731292,0.001141321,0.0006458074,0.001094221,0.001876104,0.0005816637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009798463,"about_ca_system_score_gemma":0.0009221543,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00663583,"about_ca_topic_score_gemma":0.008784808,"domain_scores_codex":[0.9995629,0.00003300624,0.00005890512,0.000154988,0.00009521226,0.00009495473],"domain_scores_gemma":[0.9992477,0.0002193077,0.0001340735,0.00002986941,0.00006143763,0.0003076024],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00004479773,0.00006219993,0.007030627,0.00001970129,0.000009711896,0.9873314,0.0005176128,0.00008501147,0.003241766,0.0001858715,0.0002549477,0.00121626],"study_design_scores_gemma":[0.00001636593,0.0001724429,0.01592868,0.00001529775,0.00001922968,0.9817576,0.0001984285,0.0003432371,0.0008743234,0.0001963196,0.000458237,0.00001983147],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916307,0.0005728801,0.001142977,0.001658767,0.0001163176,0.0001135781,0.00041338,0.00009151434,0.004259849],"genre_scores_gemma":[0.9963614,0.0002732964,0.001136951,0.0005663719,0.00009641034,0.00002471314,0.0001485979,0.00002778761,0.001364436],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00663583,"threshold_uncertainty_score":0.01319444,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01428389891060497,"score_gpt":0.2533331753113838,"score_spread":0.2390492764007788,"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."}}