{"id":"W3016422074","doi":"10.1016/j.nmd.2020.03.005","title":"Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs","year":2020,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Institutes of Health","keywords":"Muscular dystrophy; Medicine; Labrador Retriever; Connective tissue; Myopathy; Contracture; Pathology; Muscle contracture; Congenital muscular dystrophy; Anatomy; Surgery; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000170958,0.0004044677,0.0003878645,0.0001285736,0.00008700441,0.00003185443,0.0004505124,0.0003556006,0.00008620346],"category_scores_gemma":[0.0002094693,0.0004441161,0.000259308,0.0006611476,0.0002194865,0.00002382353,0.000229258,0.0004114996,0.00004731102],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002198174,"about_ca_system_score_gemma":0.0001234041,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004216985,"about_ca_topic_score_gemma":0.002806479,"domain_scores_codex":[0.9972699,0.0003433792,0.0004556895,0.001032082,0.0002588797,0.0006400771],"domain_scores_gemma":[0.9990637,0.00002110003,0.0001037113,0.0005585924,0.00004433304,0.0002085386],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002205394,0.001102445,0.2390442,0.0002083538,0.0004110095,0.0005693365,0.001379955,0.002760027,0.7477152,0.0002528239,0.001647284,0.002703961],"study_design_scores_gemma":[0.009971347,0.001413469,0.9744484,0.00002761674,0.0001198298,0.00003268455,0.0006341687,0.001342315,0.001557387,0.0003740225,0.008610392,0.001468347],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965713,0.001037295,0.0002161846,0.0005986911,0.0002975854,0.0006250375,0.00004318379,0.00003688603,0.0005738619],"genre_scores_gemma":[0.9971212,0.0006614579,0.00008171079,0.001649161,0.00008465052,0.0000744166,0.0002084239,0.00007367627,0.00004530275],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7461578,"threshold_uncertainty_score":0.999801,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007734240826582938,"score_gpt":0.2142121196707421,"score_spread":0.2064778788441592,"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."}}