{"id":"W4395464762","doi":"10.1002/mds.29821","title":"Autosomal Dominant Parkinson's Disease Caused by <scp><i>SNCA</i></scp> p.<scp>E46K</scp> Mutation in a Family with Russian Ancestry","year":2024,"lang":"en","type":"letter","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Ministry of Health of the Russian Federation; Parkinson Canada; Canada First Research Excellence Fund; Consortium canadien en neurodégénérescence associée au vieillissement; Ministry of Science and Higher Education of the Russian Federation; Michael J. Fox Foundation for Parkinson's Research","keywords":"Mutation; Parkinson's disease; Genetics; Disease; Medicine; Biology; Gene; Internal medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.000228813,0.001018883,0.0004651239,0.0005927786,0.001172619,0.0003402173,0.0002416778,0.0006723541,0.00130936],"category_scores_gemma":[0.000567792,0.0003272285,0.0005000026,0.0004541101,0.0006794552,0.0001766023,0.0004372534,0.0004444028,0.0004349204],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002978636,"about_ca_system_score_gemma":0.0002399896,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002626383,"about_ca_topic_score_gemma":0.002683837,"domain_scores_codex":[0.9997742,0.00003487815,0.00002490381,0.00009895483,0.00003692794,0.00003020618],"domain_scores_gemma":[0.9997695,0.00006934214,0.0000635609,0.00001688398,0.00001943453,0.00006130363],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004484053,0.000169606,0.1003585,0.00009944232,0.0001030047,0.7659324,0.00288318,0.0003757676,0.1199218,0.0005668818,0.0007359168,0.008405183],"study_design_scores_gemma":[0.00006946329,0.0006731082,0.19378,0.00004364597,0.0001292384,0.7900659,0.0003976864,0.00147616,0.01035017,0.0002658777,0.002698552,0.00005012647],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974895,0.0002467708,0.001064759,0.00009553321,0.0000291491,0.00002651243,0.0001671376,0.00003050712,0.000850184],"genre_scores_gemma":[0.9985511,0.0001695609,0.0006243024,0.00006466932,0.00003194444,0.000006807833,0.00008071648,0.00001092807,0.0004599104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002626383,"threshold_uncertainty_score":0.005222142,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01116074194630343,"score_gpt":0.2391526389950572,"score_spread":0.2279918970487538,"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."}}