{"id":"W2122274335","doi":"10.1111/cge.12307","title":"Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy","year":2013,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Canadian Institutes of Health Research; Genome British Columbia; Ontario Genomics Institute; Genome Canada","keywords":"Spinal muscular atrophy; Progressive myoclonus epilepsy; Medicine; Myoclonic epilepsy; Progressive muscular atrophy; Epilepsy; Clinical neurology; Neuroscience; Biology; Pathology; Amyotrophic lateral sclerosis; Disease; Psychiatry","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":[0.001709248,0.0002777344,0.000755309,0.00007486364,0.00006510733,0.00005035987,0.0002626541,0.0003665634,0.00009484145],"category_scores_gemma":[0.003829835,0.0002121805,0.0003122674,0.0002775513,0.001297007,0.00004007338,0.0002080649,0.000650493,0.00003455235],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002983897,"about_ca_system_score_gemma":0.0004757633,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001211474,"about_ca_topic_score_gemma":0.000003042493,"domain_scores_codex":[0.9960908,0.0005502537,0.001235522,0.001084472,0.0004309315,0.0006080496],"domain_scores_gemma":[0.9963561,0.001510724,0.0001725333,0.0009072566,0.0004292103,0.0006241194],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009206428,0.0008598529,0.8366236,0.0003320277,0.0001126254,0.000054036,0.00001609417,0.00000285911,0.0005944979,0.00001275699,0.0005081251,0.1599629],"study_design_scores_gemma":[0.00434858,0.006381147,0.9840279,0.0003723588,0.0002296505,0.00006061816,0.00003467987,0.002121707,0.0002899425,0.0006496314,0.001214486,0.0002693602],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9793491,0.01342649,0.002339908,0.001239051,0.0001163303,0.003458155,0.00000358711,0.00002862414,0.00003869559],"genre_scores_gemma":[0.9506524,0.009741424,0.03796038,0.0007582683,0.0003356762,0.0004466098,0.000007597007,0.00005130501,0.0000462853],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1596935,"threshold_uncertainty_score":0.8652471,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1591544006812014,"score_gpt":0.4641963342710511,"score_spread":0.3050419335898497,"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."}}