{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004258945,0.0005482725,0.0003109323,0.001244816,0.0003270881,0.0003087505,0.0003224291,0.000590207,0.002546277],"category_scores_gemma":[0.002674076,0.00013396,0.0001754154,0.0006148032,0.000572183,0.0002426226,0.0004855012,0.0002062275,0.0004758738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009526191,"about_ca_system_score_gemma":0.0001845662,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000682524,"about_ca_topic_score_gemma":0.0006617583,"domain_scores_codex":[0.9994494,0.0001194,0.00009619119,0.000175501,0.0001125099,0.00004699],"domain_scores_gemma":[0.9987397,0.0005690529,0.0003452463,0.00007224602,0.0001109292,0.0001628189],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008124362,0.0001417758,0.8214805,0.0001167668,0.0001725876,0.09573632,0.0008332475,0.0004897795,0.0678402,0.0005801094,0.0006350043,0.01116127],"study_design_scores_gemma":[0.00002729343,0.0002887927,0.8055703,0.0000318861,0.00006159156,0.189081,0.0002917169,0.000575925,0.002741283,0.0004334187,0.000880293,0.00001645705],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997802,0.00027652,0.0003956923,0.00005991017,0.00000669627,0.00001278913,0.0001924741,0.00001599679,0.00123796],"genre_scores_gemma":[0.9993753,0.00008712,0.0001806715,0.00004037771,0.000009827919,0.000006804485,0.0001782044,0.000007217871,0.0001146567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002546277,"threshold_uncertainty_score":0.008518159,"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."}}