{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007065387,0.0002212909,0.0005134797,0.00009895518,0.00004129083,0.00002455433,0.0001609709,0.0002031146,0.0003315114],"category_scores_gemma":[0.0004466613,0.000173687,0.0001558199,0.0003632723,0.0002177782,0.0000346228,0.0001348559,0.0007239821,0.0002985133],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005139534,"about_ca_system_score_gemma":0.0006541812,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001475172,"about_ca_topic_score_gemma":0.00001287936,"domain_scores_codex":[0.9974569,0.0002968078,0.0006122045,0.0005598196,0.0005111514,0.0005631094],"domain_scores_gemma":[0.997814,0.0006267699,0.00008333345,0.000657404,0.0001551645,0.0006633489],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.008629062,0.007318905,0.8886594,0.000208744,0.0004165156,0.08394582,0.0002868881,0.000134028,0.000161498,0.0000301513,0.003405599,0.006803445],"study_design_scores_gemma":[0.009762623,0.007428808,0.9708458,0.0002797755,0.0002248142,0.0009872891,0.0001067606,0.003256589,0.00002217344,0.000245575,0.006450663,0.0003891367],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932206,0.00104747,0.00002000425,0.0007796607,0.0002043483,0.0009394135,0.00004291237,0.00005447004,0.003691095],"genre_scores_gemma":[0.9923131,0.0009165739,0.0003521249,0.001050305,0.0002137555,0.00001995085,0.00008512833,0.00005439746,0.004994617],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08295853,"threshold_uncertainty_score":0.7082751,"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."}}