{"id":"W2963172142","doi":"10.1016/j.ajhg.2019.06.016","title":"De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":72,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Ministerstvo Zdravotnictví Ceské Republiky; Fondazione Telethon; National Institute for Health and Care Research; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Genome British Columbia; Department of Health and Social Care; BC Children’s Hospital Foundation; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust","keywords":"Hypotonia; Biology; Genetics; Phenotype; Missense mutation; Gene; Allele; RNA polymerase II; Transcription (linguistics); Gene expression; Promoter","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":[0.0002591965,0.0034554,0.0007776868,0.001521068,0.000788267,0.000666559,0.0008914868,0.002483251,0.003114521],"category_scores_gemma":[0.001379699,0.0005776103,0.0008324347,0.0006394492,0.001139895,0.0002892767,0.001034163,0.001116977,0.0008238146],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003989685,"about_ca_system_score_gemma":0.0003894769,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001450018,"about_ca_topic_score_gemma":0.00180082,"domain_scores_codex":[0.999384,0.00009727434,0.00009727592,0.0001590669,0.0001779879,0.0000843021],"domain_scores_gemma":[0.9988857,0.0004455785,0.0003348428,0.00005227862,0.00005557419,0.0002259667],"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":[0.0003667752,0.00007380288,0.01142265,0.00007729158,0.0001412303,0.8870006,0.0003086051,0.0004611699,0.09429138,0.0008563581,0.0006922461,0.00430797],"study_design_scores_gemma":[0.0001504483,0.0004697281,0.06852224,0.00007850229,0.0003260185,0.8903167,0.0003177956,0.002293396,0.03215427,0.0009716031,0.004304401,0.00009492965],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.986537,0.0009374392,0.004281209,0.0009404658,0.0003081351,0.00008862981,0.001368198,0.0004014602,0.005137507],"genre_scores_gemma":[0.9963372,0.0002347625,0.001414575,0.0001832016,0.0001668735,0.00002297882,0.0002716714,0.0000932772,0.001275509],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0034554,"threshold_uncertainty_score":0.01041913,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00884004322122366,"score_gpt":0.2396887122259178,"score_spread":0.2308486690046941,"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."}}