{"id":"W2070855223","doi":"10.1016/j.ajhg.2013.07.022","title":"An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1","year":2013,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":133,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"National Institute of General Medical Sciences; National Institute of Mental Health; Canadian Institutes of Health Research; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung","keywords":"Cobalamin; Missense mutation; Methylmalonic acidemia; Methylmalonic acid; Genetics; Biology; Hyperhomocysteinemia; Mutation; Homocysteine; Internal medicine; Endocrinology; Medicine; Vitamin B12; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002489827,0.002685316,0.0007679321,0.001362676,0.001813987,0.0005729006,0.0009754811,0.003003912,0.002990546],"category_scores_gemma":[0.001549101,0.0004093354,0.0007010197,0.001094287,0.001546823,0.0004394441,0.0008616495,0.001475112,0.000544631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008548399,"about_ca_system_score_gemma":0.000683207,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006025983,"about_ca_topic_score_gemma":0.003596754,"domain_scores_codex":[0.9995383,0.00005435364,0.00005740379,0.0001678859,0.00008694379,0.00009503502],"domain_scores_gemma":[0.9989693,0.0004610947,0.0002135417,0.00004306686,0.0000719713,0.0002411218],"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":[0.0005063943,0.00008278218,0.006919956,0.0001113494,0.00006206002,0.9486284,0.0005517178,0.0003183313,0.03682695,0.001064883,0.0008360927,0.004091004],"study_design_scores_gemma":[0.00016544,0.000329833,0.02459649,0.00005820406,0.0002021398,0.9486943,0.0003592033,0.001496144,0.01986613,0.0008095442,0.003373662,0.00004872253],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850301,0.001559516,0.002808085,0.002402554,0.0003707939,0.0001126655,0.0007148342,0.0002363555,0.006764971],"genre_scores_gemma":[0.9959937,0.0002624732,0.001180069,0.0003371222,0.0001459363,0.00001238611,0.0001242846,0.00002887437,0.001915012],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006025983,"threshold_uncertainty_score":0.01198179,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01944136770279318,"score_gpt":0.3192046783233584,"score_spread":0.2997633106205652,"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."}}