{"id":"W2012073172","doi":"10.1002/1098-1004(200008)16:2<132::aid-humu5>3.0.co;2-t","title":"The thermolabile variant 677C?T can further reduce activity when expressed in CIS with severe mutations for human methylenetetrahydrofolate reductase","year":2000,"lang":"en","type":"article","venue":"Human Mutation","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Thermolabile; Methylenetetrahydrofolate reductase; Missense mutation; Biology; Allele; Hyperhomocysteinemia; Reductase; Mutation; Methionine; Homocysteine; Genetics; Endocrinology; Internal medicine; Enzyme; Gene; Medicine; Biochemistry; Amino acid","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":[0.0004867483,0.0001853193,0.00022264,0.000149557,0.0005208271,0.00008809219,0.0001406705,0.00009852186,0.0006061243],"category_scores_gemma":[0.0000476798,0.0001287362,0.00007092794,0.0002576477,0.0001390491,0.0001759788,0.00001290355,0.0002781024,0.00001800798],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001584742,"about_ca_system_score_gemma":0.0001564532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009748903,"about_ca_topic_score_gemma":0.001505918,"domain_scores_codex":[0.998446,0.0001797357,0.0002698577,0.0003746245,0.0003413275,0.0003884624],"domain_scores_gemma":[0.9990646,0.0001829207,0.0000864484,0.0004151652,0.0001451667,0.0001057616],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002213444,0.0008024449,0.0003310362,0.0001669429,0.0003368953,0.0002295135,0.02098233,0.0007084834,0.8126609,0.0007542178,0.0009034502,0.1599104],"study_design_scores_gemma":[0.04958193,0.0136169,0.2841737,0.001305081,0.001429645,0.001011625,0.0124468,0.01586522,0.527733,0.07164928,0.01799827,0.003188523],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933148,0.00006728564,0.00008971731,0.001702042,0.00002333451,0.001368721,0.0000469054,0.00005302434,0.003334166],"genre_scores_gemma":[0.9924622,0.00001292955,0.0004012131,0.00005934976,0.0001055412,0.0003551536,0.0002127043,0.00005054593,0.006340376],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2849278,"threshold_uncertainty_score":0.6636636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03356924786822451,"score_gpt":0.3305885173257414,"score_spread":0.2970192694575169,"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."}}