{"id":"W4408502018","doi":"10.1016/j.gimo.2025.103048","title":"P679: Functional studies in fibroblasts cultured from patients with inborn errors of vitamin B12 metabolism","year":2025,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Vitamin B12; Metabolism; Inborn error of metabolism; Cyanocobalamin; Medicine; Endocrinology; Internal medicine; Biochemistry; Chemistry","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":[0.0004236491,0.0001878139,0.0007224472,0.0004195606,0.00003365401,0.000008090416,0.0002977838,0.0001038553,0.0001639817],"category_scores_gemma":[0.0004106257,0.0001226561,0.00002805766,0.0009555698,0.0003294728,0.00006548841,0.0003578914,0.0003189961,0.0000060989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009645096,"about_ca_system_score_gemma":0.0001981364,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007973089,"about_ca_topic_score_gemma":0.001322043,"domain_scores_codex":[0.9981571,0.0001026154,0.0005146825,0.0003751641,0.0005817275,0.0002686949],"domain_scores_gemma":[0.9989352,0.0001718215,0.00008662927,0.0003775165,0.0003502533,0.00007853688],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00311878,0.001027764,0.9252874,0.0004601686,0.0008583148,0.00008600604,0.005481991,0.0002477327,0.01131759,0.0001677625,0.03799535,0.01395118],"study_design_scores_gemma":[0.011916,0.0006271303,0.9750536,0.001765458,0.0001281311,9.797276e-7,0.002461449,0.0001104406,0.002980756,0.0003542615,0.004477664,0.0001241017],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915848,0.003112574,0.00003491114,0.001299305,0.0003299871,0.001023606,0.00002255877,0.000006325876,0.002585982],"genre_scores_gemma":[0.9933363,0.0007861623,0.002408558,0.0004275226,0.00009198304,0.00006974011,0.000174741,0.00001808197,0.002686882],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04976627,"threshold_uncertainty_score":0.500177,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06413768248515447,"score_gpt":0.389494966083317,"score_spread":0.3253572835981625,"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."}}