{"id":"W4319303771","doi":"10.1182/blood.2022017968","title":"Novel immunodeficiency caused by homozygous mutation in <i>SLC19A1</i> encoding the reduced folate carrier","year":2023,"lang":"en","type":"article","venue":"Blood","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Structural Genomics Consortium; SickKids Foundation; Hospital for Sick Children; Oracle (Canada); University of Toronto","funders":"Immunodeficiency Canada; Canadian Allergy, Asthma and Immunology Foundation","keywords":"Mutation; Immunodeficiency; Cancer research; Genetics; Biology; Medicine; Virology; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0003408904,0.0007627611,0.0008884912,0.0007392114,0.0008396687,0.0006895087,0.0008798116,0.005478199,0.002094036],"category_scores_gemma":[0.001701062,0.00029758,0.000696595,0.0004732781,0.0009596267,0.0007944722,0.0003618188,0.003290494,0.0008597559],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001103768,"about_ca_system_score_gemma":0.0004419439,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002567654,"about_ca_topic_score_gemma":0.002122541,"domain_scores_codex":[0.9996071,0.00005441137,0.00005307445,0.00009202911,0.0000695589,0.0001238347],"domain_scores_gemma":[0.9993275,0.0002982103,0.00007941631,0.00003377579,0.00009605553,0.0001650109],"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":[0.0001514902,0.00003378305,0.003875577,0.00006908093,0.0000260049,0.9547181,0.0001613111,0.000101759,0.002128555,0.001062247,0.03364497,0.004027091],"study_design_scores_gemma":[0.0001321905,0.0001444493,0.006800967,0.00009775112,0.00008480495,0.9645129,0.0001767596,0.0008798633,0.001619338,0.001448301,0.02406731,0.00003533831],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5357966,0.03296704,0.009795699,0.321241,0.03344515,0.0004837862,0.002254326,0.001476156,0.06254028],"genre_scores_gemma":[0.8879279,0.006576261,0.00287874,0.06822816,0.02062216,0.00008585171,0.0005254618,0.00010913,0.01304627],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005478199,"threshold_uncertainty_score":0.00800848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0107991315481611,"score_gpt":0.22644852770785,"score_spread":0.2156493961596889,"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."}}