{"id":"W2107712284","doi":"10.1038/nm1059","title":"LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies","year":2004,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":259,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institutes of Health","keywords":"Dystroglycan; Congenital muscular dystrophy; Muscular dystrophy; Phenotype; Biology; Laminin; Glycosyltransferase; Glycosylation; Mutation; Gene; Glycan; Alpha (finance); Cell biology; Genetics; Cell; Glycoprotein; Medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001514883,0.0001793563,0.0001879468,0.00008761617,0.00008076429,0.000004233838,0.0001202034,0.0003727563,0.00005291432],"category_scores_gemma":[0.0002774974,0.0001479422,0.00006359317,0.0001697216,0.0001388021,0.000004340889,0.00004307967,0.0003557774,0.000004903627],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003449855,"about_ca_system_score_gemma":0.00008789331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001077392,"about_ca_topic_score_gemma":0.002948087,"domain_scores_codex":[0.9989693,0.00004727122,0.0001859186,0.0003428571,0.0001783204,0.0002763423],"domain_scores_gemma":[0.9995392,0.00001497002,0.0000640438,0.0002207675,0.00007977225,0.00008126326],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001920952,0.0004937078,0.05973738,0.0001172065,0.0003192973,0.0001169091,0.0004686266,0.0008535641,0.919911,0.01262598,0.002372049,0.001063362],"study_design_scores_gemma":[0.01597196,0.002367348,0.9151888,0.0001248295,0.0001377262,0.00006675911,0.0006266467,0.00003814566,0.02431607,0.005934273,0.0345019,0.0007254984],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935385,0.002586134,0.0006077859,0.001297026,0.00040141,0.0001814292,0.00002498903,0.00001793595,0.001344791],"genre_scores_gemma":[0.9974572,0.00005595171,0.00005335645,0.0008211675,0.0005401058,0.00002222666,0.0009454701,0.0000165438,0.00008798336],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8955949,"threshold_uncertainty_score":0.6032909,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003513192460763217,"score_gpt":0.2334418406052327,"score_spread":0.2299286481444695,"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."}}