{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003398261,0.001625889,0.0006036027,0.001634964,0.001434613,0.000753885,0.0008576093,0.002958455,0.002950934],"category_scores_gemma":[0.002061292,0.0009177064,0.0007154011,0.001031158,0.000877891,0.0008253267,0.001026237,0.001305395,0.000567785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006641092,"about_ca_system_score_gemma":0.0008519361,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003643942,"about_ca_topic_score_gemma":0.004405593,"domain_scores_codex":[0.999552,0.00005933437,0.0000538601,0.000118568,0.00008771435,0.0001285221],"domain_scores_gemma":[0.9992478,0.0001695321,0.0001664044,0.00006820037,0.00006232521,0.0002856575],"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":[0.00003045698,0.0000784511,0.0145787,0.00003709141,0.00001387089,0.9797743,0.0003311535,0.00008011369,0.001761545,0.0002643607,0.0003527276,0.00269728],"study_design_scores_gemma":[0.00001703429,0.00006308661,0.00589306,0.00001527783,0.00001333644,0.9921929,0.0001078359,0.0001150121,0.0004621384,0.0001116505,0.0009974996,0.00001118435],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876809,0.001637768,0.001558873,0.001615709,0.0001678009,0.0001443739,0.0002508425,0.0001056697,0.006838089],"genre_scores_gemma":[0.9952728,0.001352655,0.001152618,0.00054259,0.0001300003,0.00002745968,0.0001202935,0.00003018523,0.001371274],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003643942,"threshold_uncertainty_score":0.00987184,"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."}}