{"id":"W3092426630","doi":"10.1101/2020.10.12.336461","title":"A dominant-negative variant in the dopamine transporter PDZ-binding motif is linked to parkinsonism and neuropsychiatric disease","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"De Beers (Canada)","funders":"National Institutes of Health; H. Lundbeck A/S; Augustinus Fonden; Lundbeckfonden","keywords":"Dopamine transporter; Parkinsonism; Dopamine; Missense mutation; Dopaminergic; Dopamine Plasma Membrane Transport Proteins; Biology; Neuroscience; Genetics; Disease; Medicine; Internal medicine; Mutation; Gene","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":[0.0001284083,0.0005472507,0.0002828797,0.0002877783,0.0002788268,0.0002113632,0.0001497856,0.00052316,0.002958038],"category_scores_gemma":[0.0001369772,0.00009571573,0.0002058863,0.0001589937,0.0002685169,0.0000837731,0.0002261263,0.0004443867,0.0005369909],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001932906,"about_ca_system_score_gemma":0.0001330622,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006323882,"about_ca_topic_score_gemma":0.0008011166,"domain_scores_codex":[0.9998914,0.00001587462,0.00001175223,0.00003515851,0.00003075765,0.00001497261],"domain_scores_gemma":[0.9999028,0.00002179025,0.00003014871,0.000006783294,0.00000864934,0.00002967518],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006824376,0.0001027805,0.009068277,0.00004935888,0.00006842236,0.01270807,0.00007293288,0.0001563162,0.9708859,0.0006884135,0.0006220262,0.004895062],"study_design_scores_gemma":[0.0003878766,0.00129909,0.2285573,0.00007573825,0.0003124249,0.1531596,0.0002798281,0.004987851,0.59014,0.00221356,0.01853164,0.00005511536],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9915406,0.0009839011,0.003541721,0.0004169637,0.00006948152,0.0000232478,0.0008235849,0.00008368436,0.002516891],"genre_scores_gemma":[0.9949926,0.0003069621,0.001416423,0.0001485855,0.00003783227,0.000006930018,0.000438817,0.00002412479,0.002627807],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002958038,"threshold_uncertainty_score":0.009895623,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01785576351205165,"score_gpt":0.2366261368948723,"score_spread":0.2187703733828207,"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."}}