{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007915869,0.0002019695,0.0002139322,0.00005078323,0.00005261377,0.000007574088,0.0002981145,0.0002754108,0.00008734784],"category_scores_gemma":[0.00001874216,0.0002160556,0.0001483023,0.00007027607,0.0001197449,0.000002531396,0.0001647355,0.0001222989,0.00003541104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006625886,"about_ca_system_score_gemma":0.00006692371,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000507147,"about_ca_topic_score_gemma":0.000004973045,"domain_scores_codex":[0.9988331,0.00007313671,0.0002862337,0.000409038,0.0001393483,0.0002591374],"domain_scores_gemma":[0.9990035,0.000004627131,0.0001518832,0.0006543233,0.0001113606,0.00007433357],"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":[0.0000524236,0.00007842528,0.001217348,0.00003152706,0.00007511894,0.000001046867,0.00007018429,0.03705827,0.9601271,0.0008115682,0.0002831721,0.0001938108],"study_design_scores_gemma":[0.001718308,0.000777965,0.002849826,0.00001974766,0.00005949479,0.000004750542,0.0001087142,0.003338469,0.9843734,0.005643923,0.0005467052,0.0005587047],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923058,0.0008717621,0.0008253042,0.0000213569,0.00006577021,0.0002462227,0.00002629945,0.00001442632,0.005623023],"genre_scores_gemma":[0.9971443,0.000132112,0.0007273905,0.0002836498,0.00001921036,0.00001076084,0.0002125336,0.00004319728,0.001426816],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0337198,"threshold_uncertainty_score":0.8810492,"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."}}