{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":["metaepi_narrow"],"category_scores_codex":[0.0002037933,0.001420886,0.001229303,0.0007042044,0.0002014462,0.0002391047,0.0003801878,0.0007031739,0.00004107123],"category_scores_gemma":[0.0001045987,0.001182521,0.0004650495,0.0007848573,0.0002104503,0.0002614658,0.000140907,0.001538575,0.0001999541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007695536,"about_ca_system_score_gemma":0.0007922964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005746424,"about_ca_topic_score_gemma":0.0002367069,"domain_scores_codex":[0.9936944,0.0001759824,0.0008345871,0.00200825,0.001674107,0.001612733],"domain_scores_gemma":[0.9975675,0.0002446668,0.0004537368,0.001001677,0.00006230752,0.0006701666],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001139452,0.001585384,0.02209664,0.001877052,0.001289936,0.01557218,0.0006337943,0.00004621953,0.0002613873,0.00008492706,0.9547147,0.001723822],"study_design_scores_gemma":[0.008020923,0.0008799144,0.06853198,0.001652482,0.00178165,0.000004523919,0.001038168,0.0005507353,0.0002744559,0.004080852,0.9128201,0.0003642081],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.7860113,0.02382448,0.0006108746,0.1643436,0.001937481,0.007686864,0.00463406,0.0008178499,0.0101335],"genre_scores_gemma":[0.3539338,0.003090155,0.0004653276,0.5980442,0.001330435,0.004601344,0.01320892,0.0008947465,0.02443114],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.4337006,"threshold_uncertainty_score":0.9998541,"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."}}