{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002704206,0.00009908522,0.0003571071,0.0001531749,0.0002473047,0.000008035846,0.0002731014,0.00002945663,0.00008128911],"category_scores_gemma":[0.00008815638,0.00005723832,0.00008538467,0.0004032232,0.0004424271,0.00002504772,0.0002607462,0.0002482409,0.000001518909],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003146918,"about_ca_system_score_gemma":0.00003599064,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001062875,"about_ca_topic_score_gemma":0.00003426138,"domain_scores_codex":[0.9987581,0.0001482591,0.0003664946,0.00009121411,0.0004934738,0.0001424173],"domain_scores_gemma":[0.9986343,0.00009763167,0.0004591379,0.0002585634,0.0004530064,0.00009729831],"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":[0.0005273334,0.0003729713,0.03567529,0.0001501826,0.0003277783,0.0001178923,0.01320707,0.0004285389,0.8645341,0.00002131219,0.0005644304,0.08407313],"study_design_scores_gemma":[0.002555121,0.01205238,0.6049041,0.0003337937,0.001169442,0.002980116,0.003789524,0.0005856604,0.3699473,0.001319758,0.00008119205,0.0002817202],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998184,0.0009560797,0.00005600765,0.0004895486,0.00003561788,0.0001712031,0.00002259739,0.000002361081,0.00008253062],"genre_scores_gemma":[0.9984457,0.0001961454,0.001050033,0.000182406,0.00006724317,3.102337e-7,0.000001726419,0.00001128166,0.00004515354],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5692288,"threshold_uncertainty_score":0.2334111,"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."}}