{"id":"W4389469460","doi":"10.1212/nxg.0000000000200114","title":"Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype","year":2023,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"B.C. Women's Hospital & Health Centre; Canada's Michael Smith Genome Sciences Centre; Fraser Health; University of British Columbia","funders":"Michael Smith Health Research BC","keywords":"Cerebellar ataxia; Cerebellum; Pathology; Ataxia; Atrophy; Medicine; Neuroscience; Dysarthria; MFN2; Biology; Genetics; Audiology; Mitochondrial DNA","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.000113539,0.000136519,0.0002287527,0.00008588642,0.00004230525,0.000003161615,0.0001754928,0.0002334137,0.0000123666],"category_scores_gemma":[0.00008164036,0.0001235291,0.00006837615,0.0002234935,0.0001404773,0.000001098921,0.0001267844,0.00009984028,0.00001729259],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002002057,"about_ca_system_score_gemma":0.00006600733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000197285,"about_ca_topic_score_gemma":0.00003815757,"domain_scores_codex":[0.99885,0.0001663597,0.000289487,0.0003360272,0.0001182231,0.0002399281],"domain_scores_gemma":[0.9991126,0.0000462,0.0001960375,0.0004441403,0.0001497677,0.00005122187],"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":[0.0006717428,0.00004490306,0.07265656,0.0001039534,0.00006996556,0.00004753184,0.00006831789,0.002893795,0.9222713,0.0001374524,0.0008748965,0.0001596564],"study_design_scores_gemma":[0.004099568,0.006400381,0.08577075,0.00002659715,0.0002420398,0.0004207656,0.00013943,0.007714603,0.8514278,0.00006574778,0.04312077,0.0005715571],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966267,0.0001891358,0.001562362,0.00006426043,0.000615941,0.0002079248,0.00002930278,0.00002655896,0.0006778322],"genre_scores_gemma":[0.9980308,0.00009065817,0.001262559,0.00008780724,0.0002246479,0.000009335058,0.00006260676,0.00003085462,0.0002006683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07084343,"threshold_uncertainty_score":0.5037373,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01175459849079622,"score_gpt":0.21651820496989,"score_spread":0.2047636064790938,"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."}}