{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002663635,0.0002340045,0.000276912,0.0001090252,0.00006656172,0.00002875768,0.0001196602,0.00005580261,0.001392723],"category_scores_gemma":[0.00006655,0.0002119153,0.0001051819,0.0002206361,0.00005511817,0.0001387674,0.00006742469,0.0001093967,0.0001536093],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002251698,"about_ca_system_score_gemma":0.00007429642,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002062216,"about_ca_topic_score_gemma":0.0003639873,"domain_scores_codex":[0.9984138,0.00004923262,0.0003428138,0.0004985054,0.0003219918,0.0003736828],"domain_scores_gemma":[0.999143,0.00004801527,0.00007540607,0.0004786607,0.00005698259,0.0001979421],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005116318,0.01032224,0.7972032,0.0001740945,0.0004982704,0.00002763913,0.0004775704,0.00009421603,0.05651396,0.003986351,0.004323435,0.1258673],"study_design_scores_gemma":[0.007168518,0.0001663632,0.9633583,0.0000298227,0.00009700125,4.842745e-7,0.000170658,0.005102504,0.001576224,0.01968766,0.002381696,0.0002607243],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9878525,0.00009049061,0.002363463,0.003540995,0.0001583999,0.001512632,0.00003083011,0.00008033255,0.004370331],"genre_scores_gemma":[0.994087,0.00008874357,0.001982053,0.002693561,0.0000690052,0.000539942,0.0001029555,0.00002844042,0.0004083232],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1661551,"threshold_uncertainty_score":0.9995201,"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."}}