{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001821309,0.0001663848,0.0001505214,0.00001837855,0.0005984209,0.0002058234,0.0003949669,0.0001429359,0.00005622003],"category_scores_gemma":[0.0002544547,0.0001604842,0.00005670661,0.0000166342,0.0004603166,0.000005550319,0.0004595927,0.0001452116,0.00001992235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001526927,"about_ca_system_score_gemma":0.00003469064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001197893,"about_ca_topic_score_gemma":0.0004017003,"domain_scores_codex":[0.9988218,0.00007237968,0.0001771527,0.0004173393,0.0001515485,0.0003597667],"domain_scores_gemma":[0.998673,0.00001736594,0.00006997625,0.0009857268,0.00005993623,0.0001939449],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001551173,0.0001512419,0.5566756,0.00004918612,0.0001346428,0.00005152496,0.0003614643,0.00001103407,0.4304036,0.00003247861,0.003214346,0.00875976],"study_design_scores_gemma":[0.0008149415,0.0007513384,0.9691286,0.00001768337,0.00002272601,0.00007354973,0.00005345293,0.0001337358,0.02622353,0.0002427641,0.002199968,0.000337682],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986122,0.0002887136,0.0001275111,0.00006278606,0.00007124713,0.0001851436,0.00003694112,0.000009880424,0.0006055587],"genre_scores_gemma":[0.9971436,0.000266739,0.0002367045,0.00006541076,0.0002012605,0.00001066481,0.00003328073,0.00002547663,0.002016926],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.412453,"threshold_uncertainty_score":0.6544356,"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."}}