{"id":"W1993867449","doi":"10.1002/humu.10093","title":"Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings","year":2002,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Children's Hospital; University of Toronto; Hospital for Sick Children; SickKids Foundation","funders":"","keywords":"Frameshift mutation; Biology; Exon; Intron; Genetics; RNA splicing; Gene; Nonsense-mediated decay; Molecular biology; Pyruvate carboxylase; Compound heterozygosity; Lactic acidosis; Stop codon; Nonsense; Mutation; RNA; Biochemistry; Enzyme","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002803315,0.00119995,0.0005311362,0.001010561,0.0007260501,0.0005416548,0.0004766958,0.001095279,0.002939395],"category_scores_gemma":[0.001253354,0.0005459665,0.000560006,0.0003689215,0.0009268448,0.0003669401,0.0009680064,0.0008794806,0.0006458921],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004939759,"about_ca_system_score_gemma":0.0003453117,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001103836,"about_ca_topic_score_gemma":0.001044687,"domain_scores_codex":[0.9994338,0.00007086329,0.00008154759,0.0001383607,0.0001909319,0.00008443698],"domain_scores_gemma":[0.9994922,0.00008955458,0.0001513427,0.00003535012,0.00003516885,0.0001964303],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.000419166,0.0003181018,0.0530415,0.0001198083,0.00008586071,0.8234623,0.002642452,0.0002212965,0.1050135,0.001502241,0.0008306348,0.01234312],"study_design_scores_gemma":[0.0001017124,0.0007926559,0.05543296,0.00002414914,0.00008544175,0.9141387,0.0006414463,0.0004547935,0.02415273,0.0004383448,0.00368599,0.00005113378],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970233,0.0002261811,0.001125565,0.0002460669,0.00004375105,0.00004418823,0.0001465751,0.00005266489,0.001091786],"genre_scores_gemma":[0.9970385,0.000238235,0.0008287298,0.0001593421,0.00003569842,0.00002249363,0.0001220058,0.00002943925,0.001525685],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002939395,"threshold_uncertainty_score":0.009833276,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01904973203273183,"score_gpt":0.2659396609424446,"score_spread":0.2468899289097128,"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."}}