{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002539041,0.0002379592,0.0006290663,0.0001336367,0.0001215003,0.00005761718,0.00008119948,0.0001254616,0.00001641847],"category_scores_gemma":[0.0001442513,0.0001810173,0.0001091838,0.0001758856,0.0002444095,0.00003246346,0.0001103179,0.0002570874,0.0000057923],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004858343,"about_ca_system_score_gemma":0.00005963389,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001011162,"about_ca_topic_score_gemma":0.000002347824,"domain_scores_codex":[0.9983178,0.0001033913,0.0004158762,0.0004458311,0.0003411329,0.000375978],"domain_scores_gemma":[0.9989574,0.00003339101,0.00006429567,0.0003638582,0.0002265305,0.0003545411],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0002242688,0.00019578,0.006686101,0.0001100527,0.001184633,0.001057318,0.0006882232,0.00001351035,0.2230215,0.006049263,0.001103092,0.7596663],"study_design_scores_gemma":[0.003771701,0.0006807583,0.8704689,0.00003577253,0.0009064928,0.0005018248,0.0001596819,0.0008911112,0.02027678,0.003820829,0.09808847,0.0003976569],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7472946,0.2509182,0.0001227626,0.001075648,0.0001185744,0.0002618046,0.000007305663,0.00002107912,0.0001800094],"genre_scores_gemma":[0.9038008,0.08400447,0.01009536,0.00148358,0.0002357629,0.000006360514,0.000009658006,0.00002285146,0.0003411456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8637828,"threshold_uncertainty_score":0.7381671,"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."}}