{"id":"W2114728613","doi":"10.1186/2051-5960-1-80","title":"Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases","year":2013,"lang":"en","type":"article","venue":"Acta Neuropathologica Communications","topic":"Prion Diseases and Protein Misfolding","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Research Resources; National Institute of Neurological Disorders and Stroke; National Institute on Aging; University of California, San Francisco; Centers for Disease Control and Prevention; Case Western Reserve University; National Institutes of Health; Canadian Centre for Applied Research in Cancer Control","keywords":"PRNP; Mutation; Point mutation; Phenotype; Biology; Genetics; Gene; Pathology; Genotype; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001529265,0.0001487203,0.0001142307,0.00004656068,0.0002544705,0.00008767261,0.000434545,0.00006067389,0.000006737979],"category_scores_gemma":[0.0001198351,0.00009656652,0.00002182107,0.0001803507,0.0001915032,0.00001809468,0.0001548777,0.0001588739,0.000002931651],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008379914,"about_ca_system_score_gemma":0.00003851868,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009443368,"about_ca_topic_score_gemma":0.0001532297,"domain_scores_codex":[0.9989049,0.0003269812,0.0002062627,0.0002730962,0.0001180583,0.0001706647],"domain_scores_gemma":[0.9987555,0.00007187745,0.0001472416,0.0008842578,0.00009372046,0.00004743196],"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":[0.0001746533,0.0006461994,0.02183607,0.00002970508,0.00002393341,0.00006998799,0.0006986755,0.0005980866,0.945012,0.0001490464,0.00008006908,0.03068154],"study_design_scores_gemma":[0.001849214,0.002773341,0.968972,0.00008811804,0.00008776044,0.002123259,0.001295897,0.003984997,0.01503078,0.000183096,0.003043812,0.000567695],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932445,0.001823633,0.002209907,0.001497223,0.000005002312,0.001096436,0.00001412419,0.00001842928,0.00009074655],"genre_scores_gemma":[0.9842653,0.0005968884,0.01403849,0.0003901586,0.0000173462,0.0005438881,0.0001215632,0.00001627094,0.00001005752],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.947136,"threshold_uncertainty_score":0.3937868,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02770972225904989,"score_gpt":0.267941309692936,"score_spread":0.2402315874338861,"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."}}