{"id":"W3134000823","doi":"10.14785/lymphosign-2021-0013","title":"A novel splice site variant in <i>FOXN1</i> in a patient with abnormal newborn screening for severe combined immunodeficiency and congenital lymphopenia","year":2021,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"FOXO transcription factor regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Severe combined immunodeficiency; Missense mutation; Immunodeficiency; Asymptomatic; Haploinsufficiency; Mutation; Compound heterozygosity; Primary immunodeficiency; Splice site mutation; Medicine; CD8; Phenotype; Immunology; Biology; Genetics; Immune system; Gene; Internal medicine; Alternative splicing; Exon","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0001716087,0.0001705326,0.0001782758,0.00008229777,0.00009955785,0.00007645009,0.00008834542,0.0001072083,0.000008918863],"category_scores_gemma":[0.0000314383,0.0001603565,0.00005240103,0.0002112614,0.0000433103,0.00002954351,0.0000407748,0.0000926289,5.407969e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005055212,"about_ca_system_score_gemma":0.0002782899,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001010621,"about_ca_topic_score_gemma":0.0003450483,"domain_scores_codex":[0.9988769,0.00004879829,0.0003398007,0.0002902886,0.0001422437,0.0003019561],"domain_scores_gemma":[0.9994941,0.00001759515,0.0001181768,0.0001470511,0.0001373442,0.00008578284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001521257,0.0002079751,0.0104534,0.0000158594,0.00004772652,0.0001385615,0.000562427,0.001484707,0.9781128,0.00005033484,0.00003058263,0.00737438],"study_design_scores_gemma":[0.1081129,0.007040366,0.4343844,0.0009253382,0.0002565344,0.08331248,0.004271854,0.02638646,0.3140916,0.0002149886,0.01800572,0.002997324],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9203957,0.001081744,0.07797208,0.00009692101,0.00007927418,0.0002290234,0.00003892203,0.000004567321,0.000101717],"genre_scores_gemma":[0.9830646,0.00007798767,0.01644091,0.0002212066,0.00003680471,0.00001934317,0.00009009067,0.0000235084,0.00002554596],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6640212,"threshold_uncertainty_score":0.653915,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008706387432417792,"score_gpt":0.207995465753628,"score_spread":0.1992890783212102,"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."}}