{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004690201,0.0007757756,0.0005197587,0.0004908218,0.0002675331,0.0007393722,0.00069484,0.0008104097,0.003357959],"category_scores_gemma":[0.0005064459,0.0003353364,0.0004160425,0.0002138745,0.0009703416,0.0006240695,0.0008468582,0.0009660333,0.0008263628],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004975487,"about_ca_system_score_gemma":0.0003256435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003948793,"about_ca_topic_score_gemma":0.0008539297,"domain_scores_codex":[0.999738,0.0000510215,0.00003902698,0.00004820586,0.00006606799,0.00005775338],"domain_scores_gemma":[0.9996711,0.0001080831,0.00006689294,0.00004726982,0.00001115692,0.00009554203],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0007431482,0.00008937552,0.0001856075,0.00006911723,0.0000318,0.0006083027,0.00002316312,0.0002698876,0.9919962,0.001263481,0.0002408495,0.004479057],"study_design_scores_gemma":[0.0003372941,0.001313197,0.002702738,0.00001759212,0.0001542404,0.003550287,0.00005571909,0.001347335,0.9792148,0.0009768078,0.01029784,0.00003225417],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.98409,0.003314025,0.005288602,0.0006113614,0.0002189997,0.00006213571,0.0004764935,0.0006143609,0.005324041],"genre_scores_gemma":[0.9934906,0.0007717722,0.002234573,0.0002134753,0.00004492932,0.00003394505,0.000373937,0.0001627756,0.002674056],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003357959,"threshold_uncertainty_score":0.01123345,"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."}}