{"id":"W4380795347","doi":"10.1161/circ.146.suppl_1.13579","title":"Abstract 13579: <i>TAX1BP3</i> -Encoding TAX1-Binding Protein 3 is a Novel Genetic Cause of Autosomal Recessive Arrhythmogenic Cardiomyopathy and Causes Pro-Arrhythmic Ryanodine Receptor 2-Mediated Calcium Leak","year":2022,"lang":"en","type":"article","venue":"Circulation","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation","funders":"","keywords":"Ryanodine receptor; Ryanodine receptor 2; Wnt signaling pathway; Medicine; Induced pluripotent stem cell; Cell biology; Cardiomyopathy; SERCA; Calcium; Internal medicine; Endocrinology; Heart failure; Biology; Genetics; Signal transduction; Biochemistry; Gene; ATPase","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007244943,0.0004033546,0.0009055351,0.0004945953,0.0003373178,0.00004551138,0.0001241631,0.0001850087,0.0002319233],"category_scores_gemma":[0.0005121884,0.0004437455,0.0004285136,0.0007982716,0.0001359886,0.0002457717,0.0001924685,0.0005247069,0.00002471463],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005362976,"about_ca_system_score_gemma":0.0003468604,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001939543,"about_ca_topic_score_gemma":0.000008749378,"domain_scores_codex":[0.996752,0.0001552302,0.0007470751,0.0008084761,0.001030744,0.0005064409],"domain_scores_gemma":[0.9981108,0.0001288706,0.0005356263,0.0006988911,0.0002845075,0.0002413346],"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":[0.000350275,0.000123416,0.02262964,0.0006689343,0.0004591929,0.0002171609,0.0007931424,0.001475888,0.9707248,0.000009905424,0.0001108999,0.00243679],"study_design_scores_gemma":[0.01362902,0.0007210255,0.6568721,0.001587385,0.002019307,0.003888048,0.001046634,0.006464547,0.3099042,0.00004811673,0.002103843,0.00171572],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930473,0.001906433,0.000631334,0.0002814842,0.000382615,0.003210365,0.0002537762,0.0001521706,0.0001345365],"genre_scores_gemma":[0.9977056,0.00005785521,0.0007126837,0.00006832577,0.0003857082,0.0006073833,0.0002707677,0.0001110035,0.00008068815],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6608205,"threshold_uncertainty_score":0.9998015,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02424080024211862,"score_gpt":0.2576155078450942,"score_spread":0.2333747076029756,"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."}}