{"id":"W2034182649","doi":"10.1002/humu.9447","title":"CpG methylation accounts for a recurrent mutation (c.1222C>T) in the humanPAH gene","year":2006,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital; Western University","funders":"","keywords":"Biology; Genetics; Exon; Allele; Locus (genetics); CpG site; Haplotype; Gene; DNA methylation; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003575359,0.0001177266,0.00009005212,0.00007641173,0.0001307233,0.00003930627,0.0001257639,0.00008580249,0.00001680205],"category_scores_gemma":[0.00005032196,0.000102123,0.00006101989,0.0001019113,0.00003214209,0.000009030792,0.00001289298,0.00004227012,0.000006404588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007730914,"about_ca_system_score_gemma":0.00003217938,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004574512,"about_ca_topic_score_gemma":0.001005023,"domain_scores_codex":[0.9990569,0.00009485284,0.0002685183,0.0002587767,0.0001568991,0.000163992],"domain_scores_gemma":[0.9995452,0.00001757633,0.0001240087,0.0001915125,0.0001074653,0.00001429686],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0005190458,0.0009677105,0.005640965,0.000212818,0.0000915696,0.000009449092,0.002706127,0.0136787,0.8198051,0.03497637,0.02023754,0.1011546],"study_design_scores_gemma":[0.006770412,0.0009951104,0.6339324,0.00003259236,0.0001733552,0.00002303342,0.001148805,0.002638962,0.1837809,0.1069707,0.06261326,0.0009204823],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9799129,0.0007833263,0.01740601,0.0001130223,0.000144785,0.0006320059,0.00002386022,0.000008902533,0.0009752306],"genre_scores_gemma":[0.9958711,0.00001968309,0.0006310127,0.0001299514,0.0003055541,0.0002583617,0.002559439,0.00001572506,0.000209192],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6360242,"threshold_uncertainty_score":0.4164455,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01623473039922307,"score_gpt":0.2936296954371092,"score_spread":0.2773949650378861,"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."}}