{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001189141,0.0001540588,0.000195697,0.0002125815,0.00009383869,0.00003215485,0.0001205932,0.00009144152,0.0002699422],"category_scores_gemma":[0.0002812415,0.0001481319,0.0001232426,0.0003513928,0.00008062188,0.00007543454,0.00003044287,0.0004907554,0.00008258982],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001506353,"about_ca_system_score_gemma":0.0001874817,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.01168629,"about_ca_topic_score_gemma":0.0498071,"domain_scores_codex":[0.9987657,0.00004198324,0.0002230628,0.0003366207,0.0002542557,0.0003783981],"domain_scores_gemma":[0.9993091,0.00003274457,0.00004568602,0.00037019,0.00004004722,0.0002022587],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005350117,0.001033823,0.9234672,0.0002269653,0.0000948059,0.001206595,0.006125992,0.0001415286,0.03873395,0.004650128,0.0008603888,0.02340508],"study_design_scores_gemma":[0.00215844,0.0002078179,0.9565749,0.00003746406,0.00007476642,0.0001789158,0.0003955744,0.002627311,0.0002100872,0.002511615,0.03473286,0.0002902001],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9846312,0.00005041153,0.00002798999,0.002556404,0.000198502,0.0005838232,0.000006023544,0.00005557667,0.01189002],"genre_scores_gemma":[0.9984559,0.00001054748,0.0003151738,0.0004338702,0.00007310697,0.00007182986,0.00004429815,0.00003837299,0.0005568708],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03852386,"threshold_uncertainty_score":0.994895,"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."}}