{"id":"W2070858953","doi":"10.1016/j.ymgme.2011.01.002","title":"Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism","year":2011,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":22,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"Canadian Institutes of Health Research","keywords":"Exon; Compound heterozygosity; Mutation; Inborn error of metabolism; Splice site mutation; splice; Genetics; Lysosome; Cobalamin; Biology; Gene; Vitamin B12; Molecular biology; Chemistry; Biochemistry; Alternative splicing; Enzyme","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000489327,0.002964518,0.001119043,0.002177294,0.001980009,0.001145111,0.001730929,0.003346005,0.002666358],"category_scores_gemma":[0.004102777,0.0009002018,0.001036379,0.001196761,0.002626641,0.0008024792,0.001159178,0.001584005,0.0005955577],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008454251,"about_ca_system_score_gemma":0.0007783355,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003530368,"about_ca_topic_score_gemma":0.002135695,"domain_scores_codex":[0.9992393,0.00007007712,0.0001175967,0.0002207163,0.0001555807,0.00019678],"domain_scores_gemma":[0.9979467,0.0008730952,0.0003312439,0.0001276535,0.000217239,0.0005041247],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0002463631,0.00009829915,0.02259408,0.00003707329,0.00003890831,0.9605284,0.0008193585,0.000246695,0.01192826,0.0004630757,0.0003204122,0.002679069],"study_design_scores_gemma":[0.00007801327,0.0002646101,0.02286162,0.00001439152,0.00008901251,0.9697131,0.0004487047,0.0005961499,0.004797064,0.0003970377,0.0006969977,0.00004324261],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994733,0.0003221994,0.001733236,0.0007792799,0.00009270779,0.0000558577,0.0002213694,0.00007989976,0.001982458],"genre_scores_gemma":[0.9980068,0.00008553319,0.0008009658,0.0001869307,0.00008046411,0.00001700378,0.0000680532,0.00003104343,0.0007233553],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003530368,"threshold_uncertainty_score":0.008919835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01613849321956779,"score_gpt":0.2488563828806483,"score_spread":0.2327178896610805,"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."}}