{"id":"W4237730765","doi":"10.14740/jmc2743e","title":"Propionic Academia: Exome Sequencing Identified Novel Mutation in Exon 12 of PCCA Gene","year":2017,"lang":"en","type":"article","venue":"Journal of Medical Cases","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Propionic acidemia; Genetics; Exome sequencing; Compound heterozygosity; Exon; Gene; Mutation; Mendelian inheritance; Allele; Medicine; Biology; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001093269,0.0005640117,0.0003270494,0.0007313197,0.0004390562,0.0002961908,0.0003211789,0.0007790939,0.002309927],"category_scores_gemma":[0.0006257088,0.0001393698,0.0002822899,0.0004958546,0.0002177021,0.0002002997,0.000397864,0.0004758559,0.0004034117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002137656,"about_ca_system_score_gemma":0.0002354167,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001812915,"about_ca_topic_score_gemma":0.002394017,"domain_scores_codex":[0.9998485,0.00000988695,0.00001509934,0.00005540084,0.00004939724,0.000021707],"domain_scores_gemma":[0.9998314,0.00005688983,0.00003201973,0.00000977775,0.00002861785,0.00004121296],"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":[0.0002701902,0.00008523565,0.04544437,0.0002255979,0.00007848975,0.7858571,0.001014221,0.0004165676,0.141734,0.000547122,0.002715574,0.02161157],"study_design_scores_gemma":[0.0000537248,0.0001826923,0.0991078,0.0001119712,0.0001659025,0.8410978,0.0004724255,0.001904498,0.04274437,0.0007989874,0.01332281,0.00003696806],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898707,0.001611328,0.002584752,0.0008372361,0.0000877323,0.00007394962,0.002064173,0.000107045,0.002763165],"genre_scores_gemma":[0.9918383,0.001010222,0.002673511,0.0003572608,0.0000613917,0.00003414588,0.001652926,0.00003294329,0.002339455],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002309927,"threshold_uncertainty_score":0.007727444,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04388060330862683,"score_gpt":0.3297524696584877,"score_spread":0.2858718663498609,"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."}}