{"id":"W2039240944","doi":"10.1016/j.ymgme.2009.04.001","title":"Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies","year":2009,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"Robarts Clinical Trials","funders":"National Heart, Lung, and Blood Institute; National Institute on Aging; National Institutes of Health; Grantová Agentura České Republiky; Wellcome Trust; Ministerstvo Školství, Mládeže a Tělovýchovy; Fondation Jérôme Lejeune; Wisconsin Alumni Research Foundation; American Heart Association","keywords":"Cystathionine beta synthase; Missense mutation; Mutant; Homocystinuria; Methionine; Compound heterozygosity; Genetics; Mutation; Homocysteine; Enzyme; Endocrinology; Internal medicine; Gene; Cystathionine gamma-lyase; Chemistry; Biology; Molecular biology; Biochemistry; Amino acid; Medicine","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":[0.001105138,0.0006119264,0.0005553973,0.001735591,0.0004300505,0.0005393765,0.0005885123,0.0008883295,0.002175467],"category_scores_gemma":[0.00253912,0.0002505888,0.0002998238,0.002004773,0.001305075,0.0004526758,0.0004101711,0.0005564306,0.0003732462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000427326,"about_ca_system_score_gemma":0.0006065976,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002619124,"about_ca_topic_score_gemma":0.001333856,"domain_scores_codex":[0.9997178,0.00008696713,0.00004006694,0.00007789225,0.00004762166,0.00002963787],"domain_scores_gemma":[0.9988204,0.0005995542,0.0001710728,0.00008189333,0.0001917017,0.0001353159],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.02943859,0.001185171,0.6003884,0.001251345,0.00151637,0.0141012,0.001737723,0.0008105795,0.2311342,0.005075031,0.001362988,0.1119985],"study_design_scores_gemma":[0.001154598,0.004338523,0.8480767,0.0002323877,0.001616051,0.04474179,0.001410377,0.0008740291,0.0717343,0.004573887,0.02113998,0.0001073068],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9796997,0.01481962,0.0008942782,0.0009491735,0.0000286949,0.00002554807,0.0005093736,0.00001561065,0.003057949],"genre_scores_gemma":[0.9932809,0.004909445,0.0005094624,0.0001589165,0.00005212145,0.00001285528,0.0004602807,0.000008095035,0.0006079419],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002619124,"threshold_uncertainty_score":0.007277727,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03574547503806075,"score_gpt":0.3891658762674249,"score_spread":0.3534204012293642,"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."}}