{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002216713,0.00009708551,0.00008608081,0.0001475009,0.00007307225,0.00003374245,0.00005769244,0.00008484125,0.00006546113],"category_scores_gemma":[0.00008414879,0.0001074291,0.00002398976,0.0001432747,0.00003521672,0.00001435811,0.00002188643,0.00007789493,0.00001095352],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002078085,"about_ca_system_score_gemma":0.000008597101,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001147274,"about_ca_topic_score_gemma":0.0006587939,"domain_scores_codex":[0.9991626,0.00008660064,0.0002289312,0.0002736231,0.00009276561,0.0001554762],"domain_scores_gemma":[0.999715,0.00001209806,0.00007838376,0.0001303349,0.00003281975,0.00003132174],"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":[0.00003483794,0.00008527124,0.004998361,0.00003217046,0.00000461124,0.00002048737,0.001010577,0.0006984699,0.9831898,0.001204876,0.00006790991,0.008652595],"study_design_scores_gemma":[0.01169409,0.001591194,0.1742637,0.0004149684,0.00008873353,0.0001678434,0.003046671,0.0135606,0.7492424,0.04257241,0.001501954,0.001855382],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970504,0.0003680937,0.0004680592,0.0001081108,0.0000360359,0.0002293579,0.000005803299,0.000009102268,0.001725061],"genre_scores_gemma":[0.9985736,0.00004802558,0.0006681982,0.00005693971,0.00004014096,0.00004383282,0.0001060388,0.00001241487,0.0004507902],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2339474,"threshold_uncertainty_score":0.4380832,"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."}}