{"id":"W2088314516","doi":"10.1016/j.nmd.2010.05.007","title":"DOK7 mutations presenting as a proximal myopathy in French Canadians","year":2010,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Myasthenia Gravis and Thymoma","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hôpital de l'Enfant-Jésus; Université Laval; Cégep de Jonquière; Montreal Children's Hospital; Montreal Neurological Institute and Hospital; McGill University; Centre Hospitalier de l’Université de Montréal","funders":"Fonds de Recherche du Québec - Santé; Alexander von Humboldt-Stiftung","keywords":"Congenital myasthenic syndrome; Exome sequencing; Myopathy; Genetics; Missense mutation; Weakness; Medicine; Locus (genetics); Phenotype; Mutation; Biology; Anatomy; Gene","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":[0.0002895244,0.00138986,0.000614462,0.002723154,0.005088764,0.0009041163,0.001200174,0.001679961,0.005368037],"category_scores_gemma":[0.001290677,0.0004775954,0.0007716579,0.002868128,0.001483722,0.0003472026,0.0007505493,0.0007327009,0.0005929648],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006499468,"about_ca_system_score_gemma":0.007701571,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8340657,"about_ca_topic_score_gemma":0.8273869,"domain_scores_codex":[0.9993328,0.00003109393,0.00004471782,0.0001000233,0.0001520177,0.0003392865],"domain_scores_gemma":[0.9994,0.00007985041,0.0001118607,0.00001818619,0.0002098046,0.0001802443],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005599874,0.0001569493,0.2818666,0.0002103546,0.0001730085,0.6800656,0.004724885,0.0004843168,0.009404189,0.001798507,0.005876772,0.0146788],"study_design_scores_gemma":[0.00009905094,0.0001831332,0.4508953,0.0002234185,0.0003130633,0.528551,0.006457326,0.0006622269,0.001176528,0.0004224672,0.01087137,0.0001451437],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9840531,0.001613616,0.0002708747,0.001308951,0.00009175076,0.00004665249,0.000680964,0.00003293136,0.01190122],"genre_scores_gemma":[0.995207,0.0009116429,0.0003204642,0.0003994844,0.00006643696,0.000007304676,0.0002039566,0.00002515905,0.002858608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1659343,"threshold_uncertainty_score":0.333823,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004540711641978025,"score_gpt":0.2362022523303963,"score_spread":0.2316615406884183,"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."}}