{"id":"W2038096175","doi":"10.1007/s00439-005-0020-1","title":"Genetic prion disease: the EUROCJD experience","year":2005,"lang":"en","type":"article","venue":"Human Genetics","topic":"Prion Diseases and Protein Misfolding","field":"Biochemistry, Genetics and Molecular Biology","cited_by":448,"is_retracted":false,"has_abstract":false,"ca_institutions":"Canadian Science Centre for Human and Animal Health; Health Canada","funders":"Health Canada","keywords":"PRNP; Fatal familial insomnia; Biology; Disease; Mutation; Human genetics; Phenotype; Point mutation; Genetics; Genetic testing; Virology; Gene; Prion protein; Genotype; Pathology; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.002139893,0.0004389468,0.0003945844,0.0007454989,0.0005332657,0.00152545,0.0002399734,0.001660143,0.00181271],"category_scores_gemma":[0.002538125,0.0001155716,0.0001478923,0.0006073907,0.001949329,0.001678714,0.001306783,0.001394057,0.0002569538],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007275129,"about_ca_system_score_gemma":0.0004093334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007777324,"about_ca_topic_score_gemma":0.0009866693,"domain_scores_codex":[0.999791,0.00006692756,0.00002010078,0.00003693367,0.00004291689,0.00004210242],"domain_scores_gemma":[0.9990715,0.0004207314,0.00009487267,0.00008349527,0.00008900392,0.0002403496],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.002778462,0.0007998598,0.06188499,0.0006712906,0.0002025752,0.06014782,0.004342316,0.0009500209,0.007752994,0.1530942,0.0867788,0.6205967],"study_design_scores_gemma":[0.000564082,0.000897905,0.05858045,0.001173096,0.0001717461,0.1131985,0.002602378,0.0005972775,0.002303645,0.07581895,0.7439875,0.0001044531],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4532201,0.3175169,0.004525575,0.102059,0.004662082,0.00003742071,0.0004533962,0.00009523235,0.1174303],"genre_scores_gemma":[0.8263302,0.133732,0.001754111,0.01949131,0.006940449,0.00002573129,0.0002110649,0.00005487306,0.01146029],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002139893,"threshold_uncertainty_score":0.01131701,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01604313410702781,"score_gpt":0.2789045091192137,"score_spread":0.2628613750121859,"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."}}