{"id":"W2898509349","doi":"10.1007/s00439-018-1950-8","title":"Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype","year":2018,"lang":"en","type":"article","venue":"Human Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Biology; Phenotype; Genotype; Human genetics; Genetics; Correlation; Molecular medicine; Genotype-phenotype distinction; Gene","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000206526,0.00008207327,0.0001038957,0.00003068643,0.00008264549,0.00002250047,0.00005903955,0.0001084269,0.00001741476],"category_scores_gemma":[0.00005227949,0.00007387396,0.00001230418,0.00004875839,0.0001070753,0.000005144935,0.0000673392,0.00006403215,0.000005379326],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001239559,"about_ca_system_score_gemma":0.00003318123,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001972536,"about_ca_topic_score_gemma":0.00007381688,"domain_scores_codex":[0.9993296,0.0000462068,0.0001239836,0.0001909656,0.0001575865,0.0001517175],"domain_scores_gemma":[0.9995002,0.00002428269,0.00009539445,0.0001664563,0.0001533413,0.0000602865],"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":[0.00006427775,0.00001441284,0.4764672,0.00004534259,0.00007915891,0.000001959501,0.0002026407,0.000009298535,0.5204674,0.00002787214,0.0001703522,0.002450113],"study_design_scores_gemma":[0.0005773542,0.002297742,0.9333459,0.00007601666,0.00006704728,0.0000112484,0.00006029069,0.0002103557,0.06259063,0.0001181239,0.000459758,0.0001855575],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997179,0.001354101,0.001115825,0.00003755244,0.00001713238,0.000128943,0.000004745203,0.000004199904,0.0001584562],"genre_scores_gemma":[0.9980565,0.000226296,0.0007365969,0.00002262888,0.0001147484,0.000002480765,0.00001783895,0.00001397827,0.0008089279],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4578767,"threshold_uncertainty_score":0.3012493,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02051498257455041,"score_gpt":0.2848039506588411,"score_spread":0.2642889680842906,"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."}}