{"id":"W1916529705","doi":"10.1002/mds.25518","title":"Alpha‐synuclein gene duplication: Marked intrafamilial variability in two novel pedigrees","year":2013,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Movement Disorders; University of Toronto","funders":"","keywords":"Gene duplication; Dementia; Alpha-synuclein; Parkinson's disease; Pedigree chart; Disease; Synuclein; Dysautonomia; Genetic heterogeneity; Genetics; Phenotype; Medicine; Biology; Neuroscience; Gene; Pathology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0004644992,0.002401121,0.0007401832,0.002185278,0.001948975,0.0007537676,0.0006517817,0.001162002,0.002928781],"category_scores_gemma":[0.002676181,0.0008328381,0.0005920451,0.001300624,0.00100982,0.0003975328,0.001156504,0.0008505908,0.0003286588],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006787876,"about_ca_system_score_gemma":0.000481248,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003458843,"about_ca_topic_score_gemma":0.004046878,"domain_scores_codex":[0.999024,0.0002067277,0.00007926857,0.0004206224,0.0001467973,0.0001224828],"domain_scores_gemma":[0.9986388,0.0005298217,0.0003395321,0.00008803832,0.00008520402,0.0003185781],"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":[0.0009192297,0.0006696706,0.2765632,0.0001280849,0.0003457769,0.661162,0.007747814,0.001015544,0.02586566,0.001130349,0.001525773,0.02292698],"study_design_scores_gemma":[0.0001414815,0.0005346584,0.2235767,0.00006519572,0.0001605225,0.768702,0.0007834884,0.001117854,0.001847379,0.0006252146,0.002363491,0.00008188331],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998165,0.0001598896,0.0007094832,0.0000997355,0.000009013802,0.00002385334,0.0001533489,0.00002504259,0.0006546623],"genre_scores_gemma":[0.9983085,0.0001459762,0.000844666,0.00005845248,0.00002951799,0.00001707442,0.0001996658,0.00001679086,0.0003793542],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003458843,"threshold_uncertainty_score":0.009797812,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01005310222338061,"score_gpt":0.2585021551773045,"score_spread":0.2484490529539239,"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."}}