{"id":"W2029186522","doi":"10.1001/archneur.63.7.1016","title":"Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene","year":2006,"lang":"en","type":"article","venue":"Archives of Neurology","topic":"Prion Diseases and Protein Misfolding","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"PRNP; Genetics; Disease; Mutation; Dementia; Biology; Genetic heterogeneity; Coding region; Gene; Medicine; Phenotype; Genotype; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005745531,0.0000819625,0.00008061181,0.00006334836,0.00002168336,0.000004410492,0.0001496764,0.00003161129,0.000001427291],"category_scores_gemma":[0.0000379043,0.00006189012,0.00003790596,0.00006569824,0.00008819115,0.000002545758,0.00004423703,0.00007838341,2.65315e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001011004,"about_ca_system_score_gemma":0.00005371473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000948087,"about_ca_topic_score_gemma":0.0002056618,"domain_scores_codex":[0.9993192,0.0001127592,0.0001442446,0.0002126291,0.0000634556,0.0001477275],"domain_scores_gemma":[0.9996857,0.00004214025,0.00005685658,0.0001848948,0.00000564204,0.000024772],"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":[0.005463902,0.001620348,0.3529645,0.000056552,0.00002672799,0.0002213509,0.0005996544,0.01064702,0.6032693,0.0006433456,0.00005320464,0.02443408],"study_design_scores_gemma":[0.001154668,0.0004808042,0.9936507,0.000007361329,0.000007353444,0.00002951917,0.0000117654,0.0002708365,0.002854405,0.0009995652,0.000459936,0.00007313817],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976879,0.0007452524,0.0005310234,0.0006417403,0.00001538612,0.0002517235,0.00003888249,0.000002858006,0.00008521357],"genre_scores_gemma":[0.998831,0.0001490203,0.0002728233,0.0005246804,0.00005056479,0.00003347825,0.0001261704,0.000008197173,0.000004051891],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6406862,"threshold_uncertainty_score":0.2523806,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004625244659177499,"score_gpt":0.2098498844319013,"score_spread":0.2052246397727238,"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."}}