{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000134647,0.001168294,0.0004752188,0.0007419494,0.0008451447,0.0004630319,0.0004663159,0.001656411,0.003038419],"category_scores_gemma":[0.0008876079,0.0002754414,0.0003366855,0.0005053027,0.000479838,0.0004481402,0.0004467006,0.0006851148,0.0004845527],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002881577,"about_ca_system_score_gemma":0.0003696301,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001801587,"about_ca_topic_score_gemma":0.002669966,"domain_scores_codex":[0.9998221,0.00000968369,0.00002328031,0.00006969464,0.00002509364,0.00005023155],"domain_scores_gemma":[0.999668,0.0000743372,0.00009586263,0.00001835379,0.00002659206,0.0001169455],"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":[0.0001008722,0.00009379967,0.06275094,0.00002624163,0.00002295409,0.9263282,0.0003197902,0.0001004527,0.008134865,0.0001977899,0.0002631128,0.001660868],"study_design_scores_gemma":[0.00002313881,0.0001639808,0.05711981,0.000009576213,0.000020421,0.9409251,0.0001485994,0.0002168068,0.000826975,0.0001120978,0.0004225975,0.00001090878],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977461,0.000233031,0.0003488884,0.0001663831,0.00001957102,0.00002182092,0.0001228197,0.0000240869,0.001317261],"genre_scores_gemma":[0.9987709,0.00009442671,0.0003010848,0.0001133352,0.00006476758,0.000007129479,0.0001122931,0.000008772254,0.0005272048],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003038419,"threshold_uncertainty_score":0.0101645,"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."}}