{"id":"W2174123252","doi":"10.14785/lpsn-2014-0021","title":"Clinical manifestations associated with novel mutations in the coiled-coil domain of STAT1","year":2014,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Mutation; Immune system; Coiled coil; Biology; Medicine; Genetics; Gene; Cell biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001342384,0.0006833054,0.0002492872,0.000618693,0.0003593495,0.0002398874,0.0001808344,0.0005394891,0.001677016],"category_scores_gemma":[0.0005864134,0.0001576544,0.0002246729,0.0003304408,0.0005263396,0.0001794135,0.0003045462,0.0003242615,0.0001839718],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001758435,"about_ca_system_score_gemma":0.000162012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005191737,"about_ca_topic_score_gemma":0.0007629726,"domain_scores_codex":[0.9998512,0.00002027724,0.00001935713,0.00004635359,0.00002364509,0.00003922537],"domain_scores_gemma":[0.9996269,0.0001068839,0.000116227,0.00002149091,0.0000270246,0.0001015148],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001449304,0.0002065564,0.3405986,0.0001865085,0.0001015111,0.5124355,0.0006224384,0.0005192849,0.1321234,0.0004982428,0.0007910266,0.01046766],"study_design_scores_gemma":[0.00007836688,0.0006091104,0.2764619,0.00002839292,0.00008676624,0.7085628,0.0001949513,0.0005081958,0.01188953,0.0002323618,0.001323972,0.0000237869],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977804,0.0005025728,0.000307452,0.00007339818,0.0000107986,0.00001280898,0.00009591368,0.00002444377,0.001192234],"genre_scores_gemma":[0.9994617,0.0001018659,0.0001221332,0.00003270095,0.00001380874,0.00000271849,0.00006227936,0.000002952931,0.0001997784],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001677016,"threshold_uncertainty_score":0.005610168,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01550937586979201,"score_gpt":0.2628676709282612,"score_spread":0.2473582950584692,"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."}}