{"id":"W4386116083","doi":"10.1017/cjn.2023.279","title":"Four Octapeptide Repeat Insertion (4-OPRI) in <i>PRNP</i> Causing Huntington Disease Phenocopy","year":2023,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Natural Sciences and Engineering Research Council of Canada; Allergan; Merz Pharmaceuticals; Norges Forskningsråd; Canadian Institutes of Health Research; Mitacs; Parkinson Society Canada; Academic Medical Organization of Southwestern Ontario; Sunovion; Boston Scientific Corporation","keywords":"Phenocopy; Huntington's disease; Disease; Biology; Medicine; Neuroscience; Internal medicine; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":true,"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":[0.0001999217,0.001026896,0.0004072659,0.0008657694,0.0004770678,0.0004236636,0.0004849713,0.001273111,0.008000189],"category_scores_gemma":[0.0007495933,0.0002499707,0.0008559501,0.0004442817,0.0006655926,0.0003281394,0.0005577357,0.0008798745,0.002199318],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004479288,"about_ca_system_score_gemma":0.0004028077,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004681205,"about_ca_topic_score_gemma":0.005624534,"domain_scores_codex":[0.9996885,0.00004828638,0.00005819707,0.00007217217,0.00006681535,0.00006608645],"domain_scores_gemma":[0.9994059,0.0001848715,0.0001458696,0.00004050777,0.00005500976,0.0001678544],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.002909695,0.000660166,0.02390502,0.0003331679,0.0003556187,0.169182,0.0008418806,0.001280885,0.7640083,0.002237622,0.006206763,0.02807874],"study_design_scores_gemma":[0.0007202278,0.002179356,0.3167349,0.0003956555,0.0009412499,0.2854358,0.001128431,0.006555558,0.3509242,0.002908096,0.03174985,0.0003265068],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.985666,0.000313924,0.003344669,0.0005958031,0.0003389289,0.0001360058,0.001348521,0.0003251663,0.007931091],"genre_scores_gemma":[0.9923438,0.0002249624,0.002553579,0.0004156003,0.00006719363,0.00002492439,0.0009842968,0.0001760808,0.003209466],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008000189,"threshold_uncertainty_score":0.02676332,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0607550776859626,"score_gpt":0.2854003699011106,"score_spread":0.224645292215148,"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."}}