{"id":"W3084271221","doi":"10.1212/nxg.0000000000000515","title":"Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability","year":2020,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Neurological diseases and metabolism","field":"Neuroscience","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto; University Health Network","funders":"","keywords":"Biology; Parkinsonism; Phenotype; Genetics; Neurodegeneration; Multiplex ligation-dependent probe amplification; Tauopathy; Genetic architecture; Gene; Pathology; Medicine; Disease; Exon","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":[0.0001488811,0.0006656893,0.0003916221,0.0004646345,0.0004047874,0.0002507561,0.0003175294,0.0004211453,0.001999238],"category_scores_gemma":[0.0006102645,0.0002327629,0.0002629657,0.0004091903,0.0004566164,0.0001684201,0.0004755385,0.000289041,0.0001882203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001900192,"about_ca_system_score_gemma":0.0001626077,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000638616,"about_ca_topic_score_gemma":0.0008095773,"domain_scores_codex":[0.9998393,0.00002760303,0.0000152752,0.00007547081,0.00002292231,0.00001943784],"domain_scores_gemma":[0.9998053,0.00007225072,0.00005705961,0.00002041541,0.00001091058,0.00003399985],"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":[0.001189138,0.0001838126,0.238283,0.000179608,0.0002234325,0.5780999,0.001256332,0.001473841,0.1442018,0.002483793,0.001390336,0.03103502],"study_design_scores_gemma":[0.00007635065,0.0002321932,0.3103647,0.00003359661,0.00008993388,0.6770438,0.0001926416,0.002530352,0.005486947,0.0009525959,0.0029572,0.00003956889],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973493,0.0001370886,0.001223099,0.00009429087,0.000006350812,0.00001241796,0.0001886833,0.0000437651,0.0009451167],"genre_scores_gemma":[0.9982394,0.00006152209,0.001229584,0.00006197641,0.00001724932,0.000009440359,0.0001239139,0.00001603212,0.0002408048],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001999238,"threshold_uncertainty_score":0.006688058,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05290714783277106,"score_gpt":0.2674530148374122,"score_spread":0.2145458670046412,"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."}}