{"id":"W2062911196","doi":"10.1212/wnl.0000000000000206","title":"Ubiquitin ligase defect by <i>DCAF8</i> mutation causes HMSN2 with giant axons","year":2014,"lang":"en","type":"article","venue":"Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Cancer Institute; National Institute of Neurological Disorders and Stroke; University of Toronto","keywords":"Ubiquitin ligase; Biology; Mutation; Genetics; Exome sequencing; Ubiquitin; Sanger sequencing; Haplotype; Molecular biology; Gene; Allele","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001056676,0.0007570108,0.0002120161,0.0002962346,0.0003439992,0.000148477,0.0001981606,0.000479231,0.001483185],"category_scores_gemma":[0.0002755766,0.0001080114,0.0002214244,0.0002055354,0.0002659951,0.0001129478,0.0002232266,0.0002388232,0.0002398309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002101142,"about_ca_system_score_gemma":0.0001263513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001080142,"about_ca_topic_score_gemma":0.001600479,"domain_scores_codex":[0.9998987,0.00001089126,0.00001141717,0.00004063022,0.00002184278,0.00001648081],"domain_scores_gemma":[0.9998604,0.00002761878,0.00005404366,0.000007048773,0.00001389083,0.00003691634],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007349483,0.0002552173,0.2868384,0.0001890734,0.0001980174,0.2068921,0.000625885,0.0005355625,0.4893901,0.0003118457,0.001271883,0.01275698],"study_design_scores_gemma":[0.0001175156,0.0006357553,0.5178862,0.00006539468,0.0001970921,0.4006438,0.0003308721,0.002313805,0.07474697,0.0002643497,0.002772622,0.00002576949],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988954,0.00009373145,0.0004169848,0.00005035254,0.000004362582,0.00001059343,0.0001116931,0.00001728554,0.0003995381],"genre_scores_gemma":[0.9987265,0.00006067983,0.0006307039,0.00004317811,0.0000159079,0.000008016253,0.0001735302,0.000006779515,0.0003345769],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001483185,"threshold_uncertainty_score":0.004961729,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01488663744165143,"score_gpt":0.2289282393802159,"score_spread":0.2140416019385645,"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."}}