{"id":"W2048439217","doi":"10.1002/humu.20705","title":"RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Kidney Foundation of Canada; American Society of Human Genetics","keywords":"Biology; Mutation; Population; Allele; Vesicoureteral reflux; Genetics; Single-nucleotide polymorphism; Loss of heterozygosity; Gene; Cancer research; Internal medicine; Genotype; Reflux; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008830628,0.0001003399,0.00008358425,0.00006056454,0.0001685509,0.00002403487,0.00008334424,0.0001530703,0.00002733414],"category_scores_gemma":[0.00001458052,0.00007480336,0.00003326547,0.0001196734,0.00006724469,0.00001424426,0.000005128621,0.0001113428,0.000005680736],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00014092,"about_ca_system_score_gemma":0.0001144927,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.1529323,"about_ca_topic_score_gemma":0.3190018,"domain_scores_codex":[0.9992439,0.00009077112,0.0001588912,0.0002042562,0.0001579807,0.0001442301],"domain_scores_gemma":[0.9996725,0.000008618791,0.00009621298,0.0001321946,0.0000513236,0.00003908943],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009771863,0.0007249667,0.4801001,0.0001249511,0.001544991,0.00215828,0.06919865,0.01724029,0.2895487,0.0008434997,0.0849078,0.05263058],"study_design_scores_gemma":[0.000703426,0.000144313,0.9957905,0.00003386847,0.00002241451,0.00001834338,0.00009234956,0.0001145282,0.002161628,0.0004257832,0.000348297,0.0001445891],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983978,0.0001105739,0.00006675951,0.0002236047,0.00004619412,0.0001576745,0.00002522365,0.000008063873,0.0009640893],"genre_scores_gemma":[0.9928919,0.00001167437,0.00004926272,0.0008893361,0.0001005782,0.00001736346,0.005528789,0.00001239728,0.0004986895],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5156903,"threshold_uncertainty_score":0.8527083,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01055421860143286,"score_gpt":0.2241289303815369,"score_spread":0.2135747117801041,"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."}}