{"id":"W2967531843","doi":"10.1111/cge.13631","title":"A homozygous missense variant in <i>CHRM3</i> associated with familial urinary bladder disease","year":2019,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Urinary Bladder and Prostate Research","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council Canada; Academy of Medical Sciences; Medical Research Council; National Institute for Health and Care Research; Newlife the Charity for Disabled Children","keywords":"Mydriasis; Missense mutation; Urinary system; Medicine; Frameshift mutation; Urinary bladder; Internal medicine; Biology; Surgery; Genetics; Mutation; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002206459,0.001142942,0.0005592259,0.0009030233,0.001264594,0.0003509459,0.0005058328,0.001784422,0.00264814],"category_scores_gemma":[0.001243034,0.0003002085,0.0005238691,0.000748586,0.0007900843,0.0003057623,0.0007843642,0.0008693757,0.0004229784],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002909398,"about_ca_system_score_gemma":0.0003122203,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002316519,"about_ca_topic_score_gemma":0.002194003,"domain_scores_codex":[0.9995849,0.00006100324,0.00004552078,0.0001308502,0.00009228509,0.00008549721],"domain_scores_gemma":[0.9992296,0.0002317966,0.0001974088,0.00003566292,0.00005456606,0.0002510527],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002399051,0.0001129015,0.05726686,0.0000679962,0.00006891078,0.892051,0.001300829,0.000161791,0.04333543,0.0005284851,0.0008737785,0.003992202],"study_design_scores_gemma":[0.00003684321,0.0003680537,0.1156071,0.00004244123,0.00009133055,0.8724237,0.0004020712,0.0004891377,0.008303135,0.0003438889,0.001847358,0.00004481841],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99433,0.0006183229,0.001477603,0.0003972854,0.000102604,0.00003002692,0.0001901066,0.00007558513,0.002778261],"genre_scores_gemma":[0.9990658,0.0000782623,0.0003220994,0.00009274657,0.00004654517,0.000003425919,0.00004214505,0.00001061979,0.0003383522],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00264814,"threshold_uncertainty_score":0.008858919,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0456046567257648,"score_gpt":0.3567996880767626,"score_spread":0.3111950313509978,"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."}}