{"id":"W3204662244","doi":"10.1093/hmg/ddab278","title":"Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy","year":2021,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Amgen (Canada); Hospital for Sick Children; Genome Canada; Nexen (Canada); University of Toronto; University of Calgary","funders":"National Institute of Neurological Disorders and Stroke; Natural Sciences and Engineering Research Council of Canada; National Institutes of Health","keywords":"Biology; Zebrafish; Lysosome; Muscular dystrophy; Pathogenesis; Congenital muscular dystrophy; Lysosomal storage disease; Cell biology; Pathology; Immunology; Gene; Genetics; Biochemistry; Medicine","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":[0.0001657571,0.0004024793,0.0001791436,0.0003255699,0.0001706945,0.0001969993,0.0001341981,0.0005020545,0.0004296311],"category_scores_gemma":[0.00008887915,0.0001521731,0.0001256911,0.00008796783,0.0003840816,0.0002059491,0.0002477494,0.0002752327,0.00008511089],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003777134,"about_ca_system_score_gemma":0.0002101204,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009297666,"about_ca_topic_score_gemma":0.001284594,"domain_scores_codex":[0.9999439,0.00001238995,0.000005690054,0.00001300438,0.00001427106,0.00001071183],"domain_scores_gemma":[0.9999473,0.000006428603,0.00002520765,0.000002874874,0.000004770412,0.00001346736],"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":[0.0002402951,0.00002013442,0.001625473,0.00006355939,0.000008651478,0.0007666529,0.00003301134,0.0001608329,0.9950943,0.0004326009,0.00005130773,0.001503179],"study_design_scores_gemma":[0.0001383466,0.001390854,0.1303202,0.00007050578,0.0001086616,0.009241691,0.0003096948,0.003349239,0.8461584,0.001420515,0.007457201,0.00003466161],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.991844,0.005562628,0.0012464,0.0001716582,0.00001318759,0.00001893597,0.00006869855,0.00003855125,0.001035843],"genre_scores_gemma":[0.9963083,0.001998474,0.0007105963,0.00004387212,0.00000535972,0.00001168932,0.00003597482,0.000004585587,0.0008811754],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009297666,"threshold_uncertainty_score":0.002740502,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006048959436104453,"score_gpt":0.2252358437789681,"score_spread":0.2191868843428637,"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."}}