{"id":"W3130847292","doi":"10.1093/hmg/ddab051","title":"Mutation in <i>Eftud2</i> causes craniofacial defects in mice via mis-splicing of <i>Mdm2</i> and increased P53","year":2021,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; BC Cancer Agency; University of British Columbia; McGill University; McGill University Health Centre","funders":"National Institutes of Health; Genome Alberta; National Institute of Dental and Craniofacial Research; Canadian Institutes of Health Research; Genome British Columbia","keywords":"Biology; Exon; Gene knockdown; Craniofacial; Neural crest; Mdm2; Mutation; Mutant; Microcephaly; Molecular biology; Genetics; Cell biology; Cancer research; Cell culture; Gene","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":[0.0001239352,0.0006146342,0.0002181108,0.000513909,0.000223092,0.0002309852,0.0002443017,0.0004948657,0.002271418],"category_scores_gemma":[0.00009512738,0.0002190912,0.0003251942,0.0001691459,0.0003172758,0.0001139279,0.000269171,0.00051392,0.0005901878],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002363602,"about_ca_system_score_gemma":0.000113938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004655442,"about_ca_topic_score_gemma":0.0008253649,"domain_scores_codex":[0.9998226,0.00002984991,0.00002611899,0.00005258273,0.00004007676,0.0000288509],"domain_scores_gemma":[0.9998912,0.00001758548,0.00004700911,0.000009437998,0.000004383773,0.00003038362],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00007263755,0.00002398874,0.0002433421,0.00001646954,0.000007087656,0.0003453365,0.000008013923,0.00004131814,0.9984029,0.0001180274,0.00004567164,0.0006752127],"study_design_scores_gemma":[0.00005079721,0.0001794706,0.009085119,0.00001656189,0.0000368146,0.003872639,0.00003351726,0.0009591223,0.9799773,0.0000888276,0.005690782,0.000009100892],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909647,0.0006352951,0.004245408,0.0001891546,0.00004560904,0.0000437757,0.001229284,0.0002408915,0.002405862],"genre_scores_gemma":[0.9913726,0.000477031,0.002968994,0.0001023737,0.00001647727,0.00006121255,0.0009074235,0.00009296629,0.004000981],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002271418,"threshold_uncertainty_score":0.007598639,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008730664291392042,"score_gpt":0.2525410819148081,"score_spread":0.2438104176234161,"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."}}