{"id":"W2109012926","doi":"10.1136/jmedgenet-2011-100286","title":"Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the <i>MTHFD1</i> gene in a single proband","year":2011,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":78,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; McGill University and Génome Québec Innovation Centre; Montreal General Hospital","funders":"Canadian Institutes of Health Research; McGill University Health Centre","keywords":"Missense mutation; Exome sequencing; Inborn error of metabolism; Genetics; Biology; MTRR; Mutation; Proband; Cystathionine beta synthase; Homocysteine; Homocystinuria; Methylenetetrahydrofolate reductase; Methionine; Gene; Biochemistry; Allele; Amino acid","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":[0.0002644017,0.001929273,0.000788669,0.001269925,0.001345013,0.0008576571,0.0007460703,0.002121347,0.002444363],"category_scores_gemma":[0.001479071,0.0004098997,0.0005219213,0.0006864881,0.0006880311,0.0003652502,0.0006110444,0.0008462762,0.0005613075],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005111563,"about_ca_system_score_gemma":0.0004688674,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002632955,"about_ca_topic_score_gemma":0.00218957,"domain_scores_codex":[0.9995334,0.00003530688,0.00004405929,0.0002080097,0.0001047142,0.00007447434],"domain_scores_gemma":[0.9993972,0.0002291365,0.0001417286,0.00002932167,0.00005880129,0.0001437937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002947441,0.0002025177,0.07166437,0.0001266761,0.00007879523,0.8556799,0.002160942,0.0005145016,0.05374573,0.0004634614,0.001006376,0.01406201],"study_design_scores_gemma":[0.00004386317,0.000296454,0.06626918,0.00006175372,0.0001576335,0.9110887,0.00042606,0.002169362,0.01528815,0.0002792902,0.003886952,0.00003256347],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958401,0.0002707028,0.001815646,0.0004213958,0.00002823904,0.00006055231,0.0004300918,0.0001004016,0.001032894],"genre_scores_gemma":[0.9944413,0.0003144316,0.002784299,0.0002092811,0.00007903464,0.00004634877,0.0003415638,0.00004694268,0.001736689],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002632955,"threshold_uncertainty_score":0.008177161,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0799888636222251,"score_gpt":0.3229325206935583,"score_spread":0.2429436570713332,"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."}}