{"id":"W2922376096","doi":"10.1002/humu.23742","title":"Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in<i>PC</i>and analysis of the genotype–phenotype correlation","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"Biotin and Related Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Biology; Genotype; Phenotype; Wild type; Genetics; In silico; Gene; Genotype-phenotype distinction; Compound heterozygosity; Mutation; Molecular biology; Mutant","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":[0.0001928092,0.0008167455,0.0003151931,0.0007933186,0.0005251401,0.0004202326,0.0003488639,0.0007732183,0.001325332],"category_scores_gemma":[0.001005999,0.0002458242,0.0004490872,0.0005124889,0.0005137334,0.0001841719,0.0003261229,0.0004994462,0.000236444],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003343204,"about_ca_system_score_gemma":0.0002762377,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00175123,"about_ca_topic_score_gemma":0.001246836,"domain_scores_codex":[0.999692,0.00003522882,0.0000545308,0.0001080471,0.00006094249,0.00004936606],"domain_scores_gemma":[0.9995354,0.0001500115,0.0001153574,0.00003650122,0.00003560277,0.0001270486],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001520583,0.0006908472,0.6275054,0.0001635161,0.0002056867,0.1652303,0.002093212,0.001338569,0.1760463,0.00147352,0.0008398522,0.02289233],"study_design_scores_gemma":[0.0001723547,0.001435677,0.6055093,0.0000292478,0.000166842,0.3493788,0.0005733101,0.002680202,0.03574635,0.0005612283,0.00367054,0.0000761073],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988606,0.00007255079,0.0006406081,0.0000307105,0.00000567241,0.00001158494,0.0001014096,0.00001026016,0.0002664806],"genre_scores_gemma":[0.9987789,0.00004347109,0.0007795153,0.00003066945,0.00001043416,0.000007362871,0.000163101,0.000008848489,0.0001776443],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00175123,"threshold_uncertainty_score":0.004433692,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007146152203588656,"score_gpt":0.2244677993729364,"score_spread":0.2173216471693477,"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."}}