{"id":"W2945999007","doi":"10.1093/hmg/ddz105","title":"Mouse model of severe recessive RYR1-related myopathy","year":2019,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Canadian Institutes of Health Research; RYR-1 Foundation; Muscular Dystrophy Association","keywords":"RYR1; Indel; Biology; Frameshift mutation; Allele; Muscle biopsy; Congenital myopathy; Genetics; INDEL Mutation; Central core disease; Skeletal muscle; Point mutation; Mutation; Ryanodine receptor; Gene; Internal medicine; Biopsy; Endocrinology; Medicine; Genotype; Receptor","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":[0.001011558,0.002013028,0.001256344,0.001912127,0.0009813196,0.0007532566,0.001658326,0.003415339,0.009604489],"category_scores_gemma":[0.0003731023,0.0007849819,0.001142867,0.0006826512,0.0008667904,0.0008151547,0.0008306409,0.00372807,0.00358098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000841855,"about_ca_system_score_gemma":0.0007184733,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007311201,"about_ca_topic_score_gemma":0.001281038,"domain_scores_codex":[0.998843,0.0001523364,0.0001824242,0.0003724209,0.000274765,0.0001750574],"domain_scores_gemma":[0.9992067,0.0001111784,0.000233731,0.0001053081,0.00009756634,0.0002455425],"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":[0.0009423008,0.001343773,0.0005609802,0.0002720232,0.00006779618,0.001370264,0.0001618659,0.0003720262,0.986728,0.001970084,0.001760525,0.004450448],"study_design_scores_gemma":[0.001765518,0.01003472,0.009765944,0.0005036749,0.0005088098,0.01215591,0.000407395,0.007543169,0.8696928,0.002098686,0.08535145,0.0001719312],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9108474,0.005148909,0.04073727,0.002374395,0.001058833,0.001879585,0.02138067,0.003564888,0.01300792],"genre_scores_gemma":[0.80758,0.007648448,0.05738339,0.001849774,0.0002901735,0.006063845,0.02887516,0.001165653,0.08914353],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009604489,"threshold_uncertainty_score":0.03213018,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007851047855527411,"score_gpt":0.2354239245895972,"score_spread":0.2275728767340698,"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."}}