{"id":"W2129970320","doi":"10.3346/jkms.2004.19.1.123","title":"X-linked Severe Combined Immunodeficiency Syndrome: The First Korean Case with γc Chain Gene Mutation and Subsequent Genetic Counseling","year":2004,"lang":"en","type":"article","venue":"Journal of Korean Medical Science","topic":"Immune Response and Inflammation","field":"Immunology and Microbiology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Aging","funders":"Korea Science and Engineering Foundation","keywords":"Mutation; Molecular biology; Gene mutation; Genetic counseling; Biology; Point mutation; Immunology; Medicine; Gene; Genetics","routes":{"ca_aff":true,"ca_fund":false,"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":[0.002574024,0.0001387727,0.0002263096,0.0001608912,0.001049366,0.00005004724,0.0004347819,0.0001166508,0.00006394036],"category_scores_gemma":[0.0004562043,0.00007711293,0.00004935492,0.0004374107,0.001454122,0.0002656284,0.00007562101,0.0004358826,0.000009245318],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000129503,"about_ca_system_score_gemma":0.0008223055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001307465,"about_ca_topic_score_gemma":0.00004687173,"domain_scores_codex":[0.998515,0.0001091555,0.000531458,0.0001816441,0.0003240751,0.0003386455],"domain_scores_gemma":[0.9989518,0.0001492801,0.0003719885,0.0001929296,0.0002523221,0.00008167576],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.005401809,0.002130401,0.004205849,0.0002267101,0.0008746225,0.06908672,0.07291681,0.007450583,0.702118,0.008135191,0.0003746174,0.1270787],"study_design_scores_gemma":[0.008875636,0.004815679,0.03743483,0.0006850894,0.0001813882,0.9032671,0.003238808,0.0006835241,0.03816521,0.001115595,0.001052978,0.0004840953],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925551,0.00213257,0.001224118,0.003572423,0.0002961044,0.0001615092,0.000001242975,0.00001192395,0.00004502052],"genre_scores_gemma":[0.9990751,0.000372033,0.0002197848,0.0002692529,0.00002340142,0.000002846744,0.000002742303,0.000007086614,0.00002772722],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8341805,"threshold_uncertainty_score":0.8070982,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007299079180341734,"score_gpt":0.2269410810562226,"score_spread":0.2196420018758808,"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."}}