{"id":"W2047798313","doi":"10.1086/341354","title":"Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L","year":2002,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":118,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill Genome Centre; McGill University; University of Calgary; McGill University Health Centre","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; U.S. Department of Health and Human Services","keywords":"Genetics; Missense mutation; Biology; Exon; Intron; Nonsense mutation; Splice site mutation; Gene; Molecular biology; Mutation; Transition (genetics); Alternative splicing","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002066941,0.0004761869,0.0005550875,0.0008803281,0.0003939874,0.0003462079,0.0004648821,0.0008241538,0.001254573],"category_scores_gemma":[0.0008964621,0.0001839981,0.000320382,0.0006120868,0.0005542886,0.0001849025,0.0002821443,0.0005944946,0.0002529817],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003195559,"about_ca_system_score_gemma":0.0002299803,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001693702,"about_ca_topic_score_gemma":0.001034869,"domain_scores_codex":[0.9997529,0.00005095263,0.00004872233,0.00006413066,0.00004535098,0.00003783562],"domain_scores_gemma":[0.9995516,0.0001827815,0.0001286956,0.00002816397,0.00002894802,0.00007982216],"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":[0.006395041,0.0005858737,0.1580247,0.0001775447,0.0002380475,0.1540952,0.001574725,0.001198295,0.6502096,0.00149337,0.0007815938,0.02522604],"study_design_scores_gemma":[0.0007694128,0.00241408,0.4389063,0.00009685233,0.000657968,0.3712027,0.0008559498,0.005299398,0.1745852,0.002225764,0.002840391,0.0001460702],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992195,0.0001326838,0.0002143935,0.00006465654,0.00000596745,0.000006649533,0.00005928535,0.000006995964,0.0002898587],"genre_scores_gemma":[0.9994683,0.00005305696,0.0002109694,0.00003215907,0.00001852637,0.000003270065,0.00007567035,0.000006396177,0.0001317728],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001693702,"threshold_uncertainty_score":0.004196942,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03530758065286751,"score_gpt":0.2914809483625274,"score_spread":0.2561733677096599,"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."}}