{"id":"W1543968553","doi":"10.1007/s00439-003-0906-8","title":"Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH)","year":2003,"lang":"en","type":"article","venue":"Human Genetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":79,"is_retracted":false,"has_abstract":false,"ca_institutions":"Robarts Clinical Trials","funders":"Canadian Institutes of Health Research; Canada Research Chairs","keywords":"Biology; Genetics; Cystathionine beta synthase; Missense mutation; Exon; Homocystinuria; Genotype; Molecular biology; Gene; Phenotype; Nonsense mutation; genomic DNA; Proband; Allele; Mutation; Methionine; Amino acid","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":[0.0004086675,0.0001950435,0.0003807601,0.0003025628,0.0001086198,0.0000193147,0.0001395824,0.0001432594,0.0005759312],"category_scores_gemma":[0.0002344994,0.0001935378,0.0001017546,0.0004028128,0.0001527671,0.00003686335,0.00004106279,0.000294076,0.00007157016],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001348609,"about_ca_system_score_gemma":0.0001981829,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001307941,"about_ca_topic_score_gemma":0.0002390237,"domain_scores_codex":[0.998108,0.0001610506,0.0005935392,0.0003374059,0.0003737246,0.0004263161],"domain_scores_gemma":[0.9988976,0.0001072095,0.000116555,0.0004877163,0.0001936227,0.0001973136],"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":[0.0001295259,0.0009381385,0.1732134,0.0002739999,0.0001057248,0.000180651,0.001803241,0.0001972301,0.8147291,0.0003201594,0.006380276,0.001728583],"study_design_scores_gemma":[0.02208959,0.00321594,0.6837561,0.0004733684,0.0003804754,0.0002493123,0.00248365,0.003489561,0.2397898,0.001081492,0.04187022,0.00112051],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994664,0.001502944,0.0001304371,0.0001090566,0.00005458614,0.00058415,0.00007231735,0.00002674153,0.002855766],"genre_scores_gemma":[0.9916773,0.0003067878,0.002922561,0.00008656792,0.00004110039,0.0000351635,0.0001814367,0.00005142536,0.004697606],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5749393,"threshold_uncertainty_score":0.7892243,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02861671601768911,"score_gpt":0.3085909507330147,"score_spread":0.2799742347153256,"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."}}