{"id":"W2084670219","doi":"10.1002/humu.21001","title":"Spectrum of mutations in<i>MMACHC</i>, allelic expression, and evidence for genotypeâphenotype correlations","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":214,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; McGill University; McGill University Health Centre; University of Toronto; McGill University and Génome Québec Innovation Centre","funders":"Canadian Institutes of Health Research","keywords":"Biology; Genetics; Missense mutation; Allele; Genotype; Mutation; Molecular biology; Gene","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":[0.0001671706,0.00006578805,0.0001292658,0.0001984651,0.00008976649,0.00001132678,0.00003636882,0.00005192071,0.00004993687],"category_scores_gemma":[0.0002103629,0.00006126434,0.00003030193,0.0001808835,0.00004539689,0.000145061,0.00000784931,0.000088195,0.000006713718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003385876,"about_ca_system_score_gemma":0.00005824214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003213384,"about_ca_topic_score_gemma":0.00007206434,"domain_scores_codex":[0.9993097,0.00002513006,0.0002298368,0.0001561447,0.0001518614,0.0001273552],"domain_scores_gemma":[0.9995208,0.0001382327,0.0000633401,0.0001219609,0.0001056273,0.00005005174],"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":[0.000732488,0.0006687546,0.0522649,0.0004879863,0.00004893702,0.00003035224,0.007651339,0.00082679,0.8999778,0.01512076,0.001166199,0.02102366],"study_design_scores_gemma":[0.00175983,0.0008772811,0.970134,0.0003069165,0.00004988723,0.00001231417,0.0002090285,0.003120899,0.01038994,0.01296972,0.00007586151,0.0000942912],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9946045,0.0006675741,0.002700088,0.0008541009,0.00002030451,0.000569165,0.000002984282,0.00001929896,0.000562039],"genre_scores_gemma":[0.9976399,0.00003683809,0.001682662,0.00007762638,0.00004739732,0.00002125214,0.0000672202,0.000007533551,0.0004195477],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9178692,"threshold_uncertainty_score":0.2498287,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08291140289485009,"score_gpt":0.39303737983723,"score_spread":0.3101259769423799,"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."}}