{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007187356,0.002351361,0.001094321,0.003513947,0.00105775,0.0007534756,0.001209927,0.00230981,0.0103206],"category_scores_gemma":[0.005606152,0.0005719027,0.0006990443,0.001849494,0.001186583,0.0005910083,0.0008147559,0.001070521,0.0009241359],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002260032,"about_ca_system_score_gemma":0.0004936121,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001996781,"about_ca_topic_score_gemma":0.001582028,"domain_scores_codex":[0.9986522,0.0003052616,0.0001954673,0.0004116879,0.0003143874,0.0001210062],"domain_scores_gemma":[0.9952542,0.002723124,0.0008100488,0.0003652113,0.0002480983,0.0005993684],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002352634,0.0003985201,0.6781542,0.000217707,0.0004788267,0.1783752,0.001646125,0.001099483,0.1206687,0.002206268,0.0007393265,0.01366306],"study_design_scores_gemma":[0.000174258,0.0007460237,0.6606235,0.0001198786,0.0005840273,0.3098382,0.0006692261,0.004741357,0.01645245,0.002847727,0.003102056,0.0001013008],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933875,0.0006717791,0.001941784,0.0003057077,0.00006671755,0.00002328599,0.0005131749,0.0000757643,0.003014259],"genre_scores_gemma":[0.9974451,0.0001763064,0.00125016,0.00008319162,0.00006973388,0.00001929516,0.0001871813,0.00005073437,0.0007184172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0103206,"threshold_uncertainty_score":0.03452587,"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."}}