{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009266153,0.0001688732,0.0002656626,0.0001861786,0.0000482507,0.000006352656,0.000373031,0.0001016596,0.0001361556],"category_scores_gemma":[0.002132724,0.0001179298,0.00004795402,0.0005078412,0.0005260484,0.0002894835,0.00008864792,0.0001649055,0.00003957132],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001104401,"about_ca_system_score_gemma":0.00008356208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001574841,"about_ca_topic_score_gemma":0.00003290267,"domain_scores_codex":[0.9979521,0.0003054291,0.0005274374,0.0005542125,0.0003300405,0.0003307752],"domain_scores_gemma":[0.998306,0.0006656761,0.0003743098,0.0004149487,0.0001278651,0.0001112317],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005907185,0.001501499,0.81108,0.00007343204,0.00001207567,0.00008138044,0.0002632984,0.000247545,0.171702,0.002982998,0.000175246,0.005973344],"study_design_scores_gemma":[0.002255042,0.002513423,0.9737338,0.00001373394,0.00002427502,0.000001975242,0.000002716577,0.0004258032,0.01599695,0.0043661,0.0004867283,0.0001794293],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968457,0.00001052092,0.00007780373,0.001930142,0.0002808077,0.0004669874,0.000134314,0.00004663246,0.0002071522],"genre_scores_gemma":[0.9987435,0.00002580534,0.000008900778,0.001093467,0.00001615164,0.00003474883,0.00001220303,0.00002401159,0.00004120196],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1626539,"threshold_uncertainty_score":0.4809039,"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."}}