{"id":"W2532054168","doi":"10.1111/jsap.12593","title":"<i>NHLRC1</i> repeat expansion in two beagles with Lafora disease","year":2016,"lang":"en","type":"article","venue":"Journal of Small Animal Practice","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; Ontario Brain Institute; Genome Canada","keywords":"Lafora disease; Medicine; Mutation; Disease; Glycogen storage disease; Pathology; Genetics; Gene; Biology","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":[0.0005562358,0.0001708783,0.000338569,0.0001553149,0.0000468224,0.00003129495,0.0001136911,0.00003680959,0.00008662239],"category_scores_gemma":[0.001431879,0.00009244412,0.0001460681,0.0001757083,0.00006142999,0.0008200154,0.00003929208,0.0002785839,0.00002856931],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00011258,"about_ca_system_score_gemma":0.0004209948,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007004732,"about_ca_topic_score_gemma":0.00002716347,"domain_scores_codex":[0.9984633,0.0001078128,0.0004877243,0.0002040438,0.0004712589,0.0002658925],"domain_scores_gemma":[0.997786,0.0003671732,0.0005657767,0.0002345097,0.000524226,0.0005222664],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.1943173,0.004726828,0.09931269,0.0003678108,0.0005898462,0.505583,0.0006135732,0.00004466243,0.1508277,0.00119143,0.005471193,0.03695394],"study_design_scores_gemma":[0.06252451,0.02125572,0.2948706,0.00845744,0.006676575,0.1388757,0.005918624,0.0001400867,0.008083084,0.0005466649,0.4509703,0.001680707],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9837937,0.001720218,0.0003334184,0.01241826,0.0001071106,0.0001953032,0.000007563325,0.00001591094,0.001408558],"genre_scores_gemma":[0.9928874,0.0005299827,0.004000648,0.001757628,0.0004374587,0.000003750845,0.000001423353,0.00003003705,0.0003516633],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4454991,"threshold_uncertainty_score":0.3769762,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01864485654822238,"score_gpt":0.3003460868695271,"score_spread":0.2817012303213047,"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."}}