{"id":"W2013849657","doi":"10.1542/peds.2012-0899","title":"Severe Combined Immunodeficiency Resulting From Mutations in <i>MTHFD1</i>","year":2013,"lang":"en","type":"article","venue":"PEDIATRICS","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"McGill University","keywords":"Medicine; Severe combined immunodeficiency; Exome sequencing; Immunodeficiency; Hydroxocobalamin; Megaloblastic anemia; Leukopenia; Immunology; Compound heterozygosity; Mutation; Vitamin B12; Immune system; Genetics; Gene; Internal medicine; Cyanocobalamin; Biology; Chemotherapy","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":[0.0001723333,0.0008219163,0.000308152,0.0005879707,0.0003452539,0.0002602931,0.0002094128,0.0005155224,0.001706561],"category_scores_gemma":[0.0004901126,0.00009882009,0.0002414373,0.0003694753,0.0005598339,0.0001821298,0.0003858046,0.0005398224,0.0003073062],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003098368,"about_ca_system_score_gemma":0.0002746743,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006776784,"about_ca_topic_score_gemma":0.0007676314,"domain_scores_codex":[0.9998659,0.00002026382,0.00001474079,0.00002732717,0.00004076154,0.00003090832],"domain_scores_gemma":[0.9997726,0.00007244064,0.00007803459,0.00001045883,0.00001574366,0.00005064967],"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":[0.0007567642,0.0001971226,0.1645937,0.0005313058,0.0002241039,0.3741769,0.0005277038,0.000662929,0.347153,0.004236933,0.004137603,0.102802],"study_design_scores_gemma":[0.0000499189,0.0006597045,0.1531481,0.0001461948,0.0001601777,0.7119689,0.000323244,0.0008913204,0.1050722,0.001343873,0.02621052,0.00002566571],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9644125,0.01087975,0.007026008,0.0009285853,0.0001751185,0.00008209713,0.001325816,0.0003641282,0.01480616],"genre_scores_gemma":[0.9933392,0.002654969,0.001901992,0.000216502,0.0000656214,0.00001500954,0.0005315878,0.00001455646,0.001260512],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001706561,"threshold_uncertainty_score":0.005709052,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008497824597524272,"score_gpt":0.2434398235647981,"score_spread":0.2349419989672739,"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."}}