{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006087085,0.0002360762,0.0002618425,0.0001792919,0.0005447022,0.0000409034,0.0004760551,0.000220188,0.000078184],"category_scores_gemma":[0.0001450423,0.0001886638,0.0001170948,0.0009663329,0.0002187629,0.0001421219,0.0001106687,0.0004520026,0.0003993078],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002745194,"about_ca_system_score_gemma":0.00008763783,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005172928,"about_ca_topic_score_gemma":0.00001379759,"domain_scores_codex":[0.9982644,0.0001463874,0.0004539713,0.0003816146,0.00007494198,0.0006787077],"domain_scores_gemma":[0.9991845,0.0001844565,0.0001384701,0.0004422258,0.00004422242,0.00000609646],"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":[0.00002136384,0.0003345541,0.0001502314,0.000009346555,0.00006628544,0.00001610709,0.003595106,0.00008322969,0.9925436,0.0002705502,0.0003316638,0.002577913],"study_design_scores_gemma":[0.01958176,0.0005762721,0.03483847,0.0002132314,0.0003356804,0.0005585435,0.01491928,0.0001917762,0.8887876,0.00067626,0.03770289,0.001618239],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9775607,0.01857267,0.00005201926,0.0003075541,0.001000294,0.0003482736,0.00006720647,0.0002027877,0.001888508],"genre_scores_gemma":[0.9975444,0.0002057619,0.000003450536,0.0001381708,0.000005084454,0.00008486518,0.0002470647,0.00002972495,0.001741464],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1037561,"threshold_uncertainty_score":0.7693488,"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."}}