{"id":"W3089051671","doi":"10.1101/2020.09.22.308205","title":"Mis-splicing of <i>Mdm2</i> leads to Increased P53-Activity and Craniofacial Defects in a MFDM <i>Eftud2</i> Mutant Mouse Model","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"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":"Genome Canada; McGill University","keywords":"Craniofacial; Exon; Neural crest; Biology; Cranial neural crest; Intron; Mutant; RNA splicing; Programmed cell death; Microcephaly; Embryonic stem cell; Mutation; Cell biology; Genetics; Gene; RNA; Apoptosis","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":[0.0002278499,0.0006498825,0.0003109604,0.0007980958,0.0002763636,0.0003201585,0.0003160781,0.0006539293,0.003195554],"category_scores_gemma":[0.00009571637,0.0003090185,0.000443411,0.0001755299,0.0004476183,0.000194633,0.0002707248,0.0008988008,0.0006686816],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002654863,"about_ca_system_score_gemma":0.0001433532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005363324,"about_ca_topic_score_gemma":0.0007979349,"domain_scores_codex":[0.9998165,0.00002943991,0.00002429081,0.00004671436,0.00005607349,0.00002707516],"domain_scores_gemma":[0.9998312,0.00002384886,0.00005699816,0.00001797325,0.000009370511,0.00006061465],"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":[0.0001254296,0.00004081968,0.0002660793,0.00001843715,0.00001022228,0.0003937905,0.00001291381,0.00006491349,0.9979309,0.0002343935,0.00009767073,0.0008044725],"study_design_scores_gemma":[0.0000561372,0.0002697716,0.004265892,0.00001414657,0.00003817852,0.002864793,0.00003313925,0.001359257,0.9872103,0.0001720827,0.003708094,0.000008227986],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9912851,0.0006009847,0.004610442,0.000291773,0.00005026137,0.00003240115,0.000895416,0.0002791559,0.001954409],"genre_scores_gemma":[0.9849706,0.0006182853,0.005030223,0.000141815,0.00002865796,0.00006514915,0.0009086117,0.0001569508,0.008079765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003195554,"threshold_uncertainty_score":0.01069021,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01446303607302593,"score_gpt":0.2393659993853818,"score_spread":0.2249029633123558,"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."}}