{"id":"W2075839436","doi":"10.1016/j.ajhg.2012.03.023","title":"Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability","year":2012,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":231,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; Wellcome Trust","keywords":"Genetics; Biology; Disease gene identification; Locus (genetics); Missense mutation; Gene; Mutation; Exome sequencing","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":[0.000200439,0.001756708,0.0003743521,0.001052534,0.0005347346,0.0002690245,0.0004496273,0.000973253,0.001971178],"category_scores_gemma":[0.0007841237,0.0001992582,0.0004209183,0.0004840848,0.0007578236,0.000194628,0.000494006,0.0005169326,0.0003717531],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003995624,"about_ca_system_score_gemma":0.0003225884,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001577512,"about_ca_topic_score_gemma":0.00196683,"domain_scores_codex":[0.9997663,0.00003558282,0.00002666204,0.00004941594,0.0000945549,0.00002749249],"domain_scores_gemma":[0.9995271,0.0001872635,0.0001220005,0.00002137462,0.00002723932,0.0001150183],"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":[0.001652368,0.0003183452,0.02886765,0.0002349426,0.0003045111,0.2361699,0.0004083584,0.001407596,0.6998515,0.002631395,0.003693043,0.02446041],"study_design_scores_gemma":[0.0006205708,0.0009035436,0.1560742,0.0001248971,0.0004913738,0.4590811,0.000530335,0.009234594,0.3512396,0.003012249,0.01854744,0.0001401037],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884595,0.0007635006,0.004354463,0.0007542789,0.0002325518,0.00004243282,0.00090207,0.0003035206,0.00418751],"genre_scores_gemma":[0.9956844,0.0002536117,0.001560596,0.00009911699,0.00007066534,0.00001530982,0.0003283044,0.00004113187,0.001946985],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001971178,"threshold_uncertainty_score":0.0065943,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02287935632249984,"score_gpt":0.3206435017237026,"score_spread":0.2977641454012028,"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."}}