{"id":"W2052099280","doi":"10.1006/mgme.2001.3210","title":"Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia","year":2001,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Biotin and Related Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":40,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"Canadian Institutes of Health Research; Health Canada","keywords":"Gene; Propionic acidemia; Biology; Exon; Start codon; Genetics; Eukaryotic translation; Intron; Stop codon; Nucleotide; Mutation; Molecular biology; Biochemistry; Translation (biology); Messenger 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":[0.00004660154,0.0001027244,0.0001368554,0.00001623221,0.00008595939,0.000006982847,0.00005563659,0.0001354745,0.000001385728],"category_scores_gemma":[0.00003414844,0.00007144053,0.00005128858,0.00009880312,0.0002116155,0.000001250393,0.0001242018,0.00007132846,4.190697e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002161356,"about_ca_system_score_gemma":0.00003051685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001269732,"about_ca_topic_score_gemma":0.000008853449,"domain_scores_codex":[0.999414,0.00004428351,0.0001710948,0.0001658015,0.00008936274,0.0001155146],"domain_scores_gemma":[0.9995879,0.000003369327,0.0000974979,0.0001838622,0.00009272556,0.00003466506],"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":[0.00000748997,0.00001142505,0.001658608,0.00001532804,0.00007522477,9.129573e-7,0.00005767204,0.0001138033,0.9957291,0.0003829931,0.00001841182,0.001929022],"study_design_scores_gemma":[0.0003378261,0.00003109208,0.06732099,0.00001205414,0.0001335042,0.00004180305,0.00003936852,0.00006884449,0.9263902,0.000514784,0.005017642,0.0000918708],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9662858,0.03173601,0.001506854,0.0001423563,0.00009575269,0.0001355348,0.00005757367,0.000001971338,0.0000381325],"genre_scores_gemma":[0.99426,0.004948305,0.0006158012,0.00004862051,0.000032632,0.00000152751,0.00004522123,0.000008971004,0.00003890432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06933888,"threshold_uncertainty_score":0.291326,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004404828048877422,"score_gpt":0.2188571920088918,"score_spread":0.2144523639600144,"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."}}