{"id":"W3119414709","doi":"10.1111/nan.12771","title":"<i>TRAPPC11</i> ‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain","year":2021,"lang":"en","type":"article","venue":"Neuropathology and Applied Neurobiology","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Concordia University","funders":"NIHR Great Ormond Street Hospital Biomedical Research Centre; Natural Sciences and Engineering Research Council of Canada; Seventh Framework Programme; Muscular Dystrophy UK; Rosetrees Trust; Medical Research Council; Department of Health and Aged Care, Australian Government; Canadian Institutes of Health Research; National Institute for Health and Care Research; Wellcome Trust","keywords":"Muscular dystrophy; Dystroglycan; Pathology; Biology; Congenital muscular dystrophy; Muscle weakness; Dystrophin; Neuroscience; Medicine; Anatomy; Cell biology; Genetics; Laminin","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":[0.0003348553,0.0005614763,0.0002523469,0.001399075,0.0003064125,0.0004759019,0.000260379,0.0002964468,0.0007957921],"category_scores_gemma":[0.0005265135,0.000129379,0.0003070178,0.0009678639,0.0003966501,0.0002386468,0.0002886191,0.0002529952,0.0003070871],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000347976,"about_ca_system_score_gemma":0.0003146467,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001671282,"about_ca_topic_score_gemma":0.002560367,"domain_scores_codex":[0.9997893,0.00002670495,0.00004972175,0.00007001372,0.00003846866,0.00002574666],"domain_scores_gemma":[0.999543,0.00007826564,0.0002156551,0.00002698522,0.0000983837,0.00003772636],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0009837546,0.0001409437,0.2944129,0.005682109,0.001095237,0.2403091,0.001273886,0.001239354,0.2575261,0.0009652554,0.009871323,0.1865],"study_design_scores_gemma":[0.00003823247,0.0005115134,0.3600152,0.0008320346,0.0009006053,0.5710989,0.0004008275,0.0005769951,0.03984296,0.0003096327,0.0254385,0.00003465766],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9496433,0.03338009,0.004761727,0.0003858818,0.00009675054,0.0001280908,0.0009248938,0.0002523153,0.01042684],"genre_scores_gemma":[0.9825675,0.01183763,0.001984687,0.0004108792,0.0000836714,0.00002447978,0.0008628894,0.00004235418,0.002185976],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001671282,"threshold_uncertainty_score":0.003323078,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003386439179847417,"score_gpt":0.1789515805407699,"score_spread":0.1755651413609225,"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."}}