{"id":"W4381089891","doi":"10.1093/narcan/zcad030","title":"DICER1 platform domain missense variants inhibit miRNA biogenesis and lead to tumor susceptibility","year":2023,"lang":"en","type":"article","venue":"NAR Cancer","topic":"Congenital Diaphragmatic Hernia Studies","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Université de Montréal; McGill University; Jewish General Hospital","funders":"Fonds de Recherche du Québec - Santé; Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; University of Texas MD Anderson Cancer Center","keywords":"Missense mutation; Germline; microRNA; Biology; Genetics; Endoribonuclease; Ribonuclease III; Biogenesis; Somatic cell; Gene silencing; Cancer research; Gene; Mutation; RNase P; RNA interference; RNA","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000322097,0.0001964922,0.0003883995,0.0001605833,0.0001149633,0.00002007457,0.00006118481,0.00006487745,0.0004136971],"category_scores_gemma":[0.0003118063,0.0001660057,0.00007356421,0.0006010123,0.00009054325,0.00005685393,0.0001340595,0.0001064791,0.000464683],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002089546,"about_ca_system_score_gemma":0.0001234467,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008757247,"about_ca_topic_score_gemma":0.002806063,"domain_scores_codex":[0.998578,0.00002238612,0.0002826918,0.0004045343,0.0003207412,0.0003916839],"domain_scores_gemma":[0.9991529,0.0001296101,0.00004636706,0.0003123774,0.0001069337,0.0002517986],"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":[0.001737086,0.0003176808,0.3402076,0.001647662,0.0009644201,0.00198202,0.01704642,0.000007417214,0.3706344,0.0001187904,0.08029762,0.1850388],"study_design_scores_gemma":[0.003021219,0.000373601,0.9500452,0.0004468784,0.0002497129,0.0001134414,0.003118778,0.0001737389,0.007302382,0.000470738,0.03414409,0.0005402181],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921619,0.0009793765,0.000007920206,0.004272854,0.0002074993,0.0006381386,0.0001404811,0.0001588936,0.00143296],"genre_scores_gemma":[0.9958331,0.0001708037,0.000440321,0.001174177,0.0001928234,0.0001217758,0.000009772028,0.00003583978,0.002021388],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6098376,"threshold_uncertainty_score":0.6769517,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03696688922843552,"score_gpt":0.3152014420412308,"score_spread":0.2782345528127953,"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."}}