{"id":"W2578320483","doi":"10.1212/wnl.86.16_supplement.s44.002","title":"Identification of ALS5/SPG11/ <i>KIAA1840</i> Mutations in Patients with Autosomal Recessive Form of Charcot-Marie-Tooth Disease Type 2 (S44.002)","year":2016,"lang":"en","type":"article","venue":"Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"","keywords":"Medicine; Tooth disease; Genetics; Disease; Internal medicine; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002236621,0.0005367786,0.0002278699,0.0009278676,0.000575636,0.0003293947,0.0002346876,0.0003836327,0.001918713],"category_scores_gemma":[0.0006329387,0.0001803486,0.0001871112,0.0005178973,0.0002904232,0.0001304877,0.0002714598,0.000161143,0.0002448047],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000257246,"about_ca_system_score_gemma":0.0002183211,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003374,"about_ca_topic_score_gemma":0.003622434,"domain_scores_codex":[0.9997612,0.00003960734,0.00002755241,0.00008158239,0.00004606395,0.00004402051],"domain_scores_gemma":[0.99979,0.00003481796,0.00007916187,0.000008750741,0.00003035973,0.00005684848],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003238714,0.000123487,0.9615586,0.0000342933,0.00005691886,0.00951932,0.0006195538,0.0001094452,0.02066164,0.00003922649,0.0002286328,0.006724998],"study_design_scores_gemma":[0.00004515461,0.0003812861,0.9818004,0.00001410769,0.00005616538,0.01466869,0.0003387907,0.0002194681,0.00189351,0.00003503077,0.0005395526,0.000007785527],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9997316,0.00004047111,0.00004113256,0.000008135547,0.000001059901,0.000005765513,0.00004095766,0.000003138541,0.0001276709],"genre_scores_gemma":[0.999593,0.00002467156,0.0001325764,0.00002112322,0.000003082779,0.000004704129,0.00009999751,0.000001903846,0.0001188668],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003374,"threshold_uncertainty_score":0.006708741,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01358010008997481,"score_gpt":0.2407313231847145,"score_spread":0.2271512230947397,"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."}}