{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001075626,0.0001087765,0.00009456635,0.00005476366,0.00005788354,0.00003948106,0.0002253708,0.000149642,0.00005723362],"category_scores_gemma":[0.0003018107,0.0001053083,0.00005649519,0.0002539831,0.00004594384,0.000005025135,0.0001743674,0.0001678637,0.0001102309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001449641,"about_ca_system_score_gemma":0.0000668349,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005709698,"about_ca_topic_score_gemma":0.00002297993,"domain_scores_codex":[0.9990087,0.00004521476,0.0002103452,0.0002993117,0.0001448973,0.0002915155],"domain_scores_gemma":[0.9994757,0.00003299179,0.0000445618,0.0002695373,0.00009972211,0.00007750885],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00003942673,0.0001782689,0.02445719,0.00001816356,0.00001015639,0.000004941998,0.00008103517,0.0000516646,0.9657565,0.00004888362,0.005201142,0.004152577],"study_design_scores_gemma":[0.01113308,0.001083721,0.1632685,0.00005664238,0.0001132517,0.00003444149,0.001184852,0.002614324,0.7710123,0.009012895,0.03762964,0.002856352],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949789,0.001343499,0.0003138083,0.0003433945,0.00007136365,0.0002082787,0.00002980917,0.00001332154,0.002697618],"genre_scores_gemma":[0.9974721,0.0002412352,0.001032556,0.0002212915,0.0001475465,0.00004486283,0.0004159667,0.00001650428,0.0004079526],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1947443,"threshold_uncertainty_score":0.4294346,"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."}}