{"id":"W4417291129","doi":"10.64898/2025.12.11.25341975","title":"DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Institutes of Health; International Rett Syndrome Foundation; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de la Recherche; Muscular Dystrophy Association; European Commission","keywords":"RNA splicing; Exon; Gene; Alternative splicing; Neurodevelopmental disorder; Transcriptome; RNA-binding protein; Neurogenesis","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":[0.0001598665,0.0007158268,0.0002752597,0.0004694368,0.0003147289,0.000309654,0.0002208825,0.000572597,0.003625249],"category_scores_gemma":[0.0003512803,0.0001088001,0.0003335245,0.0003005757,0.0004217811,0.00008358319,0.0003896522,0.0006815143,0.0008196267],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002072549,"about_ca_system_score_gemma":0.0001345656,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007685598,"about_ca_topic_score_gemma":0.0006506295,"domain_scores_codex":[0.9997959,0.00002817854,0.00001741944,0.00007195189,0.00005627107,0.00003033435],"domain_scores_gemma":[0.9998185,0.00005420078,0.00005882171,0.00001996431,0.00001093005,0.00003756022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007646933,0.0001218809,0.03687295,0.0001561094,0.0002122393,0.0265682,0.0002451418,0.001004636,0.9147736,0.001377177,0.002838498,0.01506501],"study_design_scores_gemma":[0.0001366512,0.0003773455,0.2991451,0.0001000149,0.0003322861,0.1064453,0.0004248562,0.005170438,0.5570531,0.002138529,0.02863828,0.00003794604],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844494,0.0006916653,0.007667224,0.0004453656,0.0001428013,0.00004569146,0.002443797,0.0002959199,0.003818053],"genre_scores_gemma":[0.9930317,0.0003720782,0.002509675,0.0001599281,0.00007142442,0.00001685659,0.001460967,0.0001072512,0.002270036],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003625249,"threshold_uncertainty_score":0.01212764,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.016810751735685,"score_gpt":0.2805816505843642,"score_spread":0.2637708988486792,"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."}}