{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001461761,0.0004810943,0.0003567094,0.0001963653,0.0001977248,0.0002947404,0.0001551097,0.0003244256,0.001193203],"category_scores_gemma":[0.0002599883,0.0001309313,0.0003660422,0.0002141953,0.0002801859,0.00007355191,0.0003299548,0.0005737391,0.0005089549],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002503075,"about_ca_system_score_gemma":0.0002715694,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001189905,"about_ca_topic_score_gemma":0.001903034,"domain_scores_codex":[0.9997312,0.00006298163,0.00003726307,0.00004887816,0.00007700732,0.00004263945],"domain_scores_gemma":[0.9997967,0.0000533475,0.00005564653,0.00002588362,0.00001962547,0.00004878612],"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":[0.00007819591,0.00001820822,0.0005025935,0.0000236216,0.00001471266,0.0003481458,0.00004631298,0.00007773885,0.9976643,0.0001082356,0.0000421295,0.001075793],"study_design_scores_gemma":[0.00002830707,0.0006489889,0.009467178,0.00001722481,0.00008149555,0.006308028,0.0001311975,0.001018731,0.9773547,0.000102771,0.004822619,0.00001884246],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945451,0.0005222319,0.003257174,0.00009783185,0.00004232859,0.00002685705,0.0004052035,0.00005656147,0.001046687],"genre_scores_gemma":[0.9961476,0.0003792789,0.001802176,0.00003361698,0.000009101839,0.00001550595,0.0006779596,0.00003302463,0.0009016228],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001193203,"threshold_uncertainty_score":0.003991663,"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."}}