{"id":"W1537453399","doi":"10.1186/s13023-015-0321-y","title":"Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes","year":2015,"lang":"en","type":"review","venue":"Orphanet Journal of Rare Diseases","topic":"Folate and B Vitamins Research","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Center for Advancing Translational Sciences; National Institute of Mental Health; U.S. Department of Health and Human Services; National Institutes of Health; European Commission; Harvey Mudd College; Strong","keywords":"Cystathionine beta synthase; Methionine; Heterozygote advantage; Homocystinuria; Compound heterozygosity; Methionine synthase; Homocysteine; Methionine Adenosyltransferase; Newborn screening; Biology; Allele; Genetics; Human genetics; Genotype; Protein subunit; Internal medicine; Biochemistry; Medicine; Gene; Amino acid","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001325516,0.0005131451,0.002990783,0.0005725272,0.00009126458,0.0001163104,0.0009376763,0.0001801772,0.00009248914],"category_scores_gemma":[0.001946491,0.0003452733,0.0004932712,0.0004191862,0.0003438169,0.0004272162,0.0004265281,0.0003744857,0.000008645203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008579052,"about_ca_system_score_gemma":0.002773004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009404794,"about_ca_topic_score_gemma":0.00002916584,"domain_scores_codex":[0.9962595,0.0004017998,0.001353742,0.0004967471,0.001024884,0.0004632986],"domain_scores_gemma":[0.9940875,0.001347909,0.001099618,0.001076488,0.001212363,0.00117609],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003226421,0.002058171,0.004830085,0.1016952,0.001730514,0.002658523,0.00005383378,0.000001835262,0.000003902466,0.00001659021,0.06527337,0.8184516],"study_design_scores_gemma":[0.004809374,0.002230908,0.006317826,0.0334556,0.01181407,0.003115137,0.00009742686,0.0001674387,0.000001828939,0.0001016558,0.9370946,0.0007941424],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002811315,0.9816483,0.00004501487,0.00004137449,0.0001676439,0.001080316,0.01417059,0.0000118267,0.00002363561],"genre_scores_gemma":[0.004666197,0.9892384,0.0003033584,0.00002929318,0.0002739594,0.00001752039,0.005189269,0.00008533506,0.0001966434],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.8718212,"threshold_uncertainty_score":0.9998999,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1830762982787777,"score_gpt":0.4206303017293043,"score_spread":0.2375540034505266,"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."}}