{"id":"W2604495421","doi":"10.1007/s00439-017-1795-6","title":"Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability","year":2017,"lang":"en","type":"article","venue":"Human Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":95,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Biology; Genetics; Hypotonia; Microcephaly; Intellectual disability; Corpus callosum; Missense mutation; RNA splicing; Gene; Phenotype; Neuroscience; RNA","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":[0.0002578375,0.001671322,0.0005461533,0.00119809,0.00066211,0.0004029573,0.0005632103,0.001696002,0.003967074],"category_scores_gemma":[0.001087936,0.0003788469,0.0005178099,0.0008476226,0.0008969197,0.0002793031,0.0007173424,0.0005848979,0.0006681943],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001995118,"about_ca_system_score_gemma":0.0002161564,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001120227,"about_ca_topic_score_gemma":0.001829171,"domain_scores_codex":[0.999587,0.00009394727,0.00006842225,0.00009027577,0.00009279955,0.00006753662],"domain_scores_gemma":[0.9990057,0.0003751943,0.0003800401,0.0000615071,0.00004192096,0.0001356508],"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":[0.004088629,0.0005095805,0.1368489,0.0002124387,0.0005986009,0.4776832,0.001014452,0.0009440684,0.3479353,0.003530359,0.00292317,0.02371118],"study_design_scores_gemma":[0.0003349076,0.0008986908,0.3907714,0.0000884173,0.0007005555,0.5378546,0.0009100364,0.002498085,0.0543337,0.004637109,0.00682834,0.0001440992],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993525,0.0006652553,0.001912758,0.0003185222,0.0001088893,0.00002030357,0.0004643096,0.0001091079,0.002875891],"genre_scores_gemma":[0.9974297,0.0001610721,0.0008005278,0.00008281481,0.00009783752,0.000008392884,0.0002060752,0.00003983948,0.001173658],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003967074,"threshold_uncertainty_score":0.01327121,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0354060235868863,"score_gpt":0.3157267125531281,"score_spread":0.2803206889662417,"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."}}