{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001165252,0.0009256102,0.0003658053,0.0005770816,0.0005633348,0.000285617,0.0004072603,0.0009875087,0.01099252],"category_scores_gemma":[0.0002212868,0.0001547288,0.0005218578,0.0004698323,0.0004858748,0.000176472,0.0003859931,0.0008067967,0.002250704],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004331151,"about_ca_system_score_gemma":0.000285161,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001453452,"about_ca_topic_score_gemma":0.001234695,"domain_scores_codex":[0.9998348,0.0000171364,0.00001765634,0.00005869479,0.00004940975,0.00002229133],"domain_scores_gemma":[0.9998809,0.00002317977,0.00003357211,0.000007076957,0.00001240993,0.00004281058],"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":[0.001061943,0.0002168677,0.01690592,0.0002974887,0.0001710579,0.185185,0.000358318,0.000331554,0.7663282,0.002586026,0.008256214,0.01830144],"study_design_scores_gemma":[0.000380502,0.0008193156,0.2027261,0.0002810101,0.0004011626,0.5465984,0.0004243271,0.003262549,0.1531614,0.002279852,0.08955093,0.0001144713],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9607051,0.001566725,0.008244281,0.002020965,0.0005373437,0.0003186031,0.01374589,0.0005278458,0.01233324],"genre_scores_gemma":[0.9722751,0.001015711,0.004952191,0.0008689791,0.0002817312,0.0001122063,0.008145472,0.0003370614,0.01201149],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01099252,"threshold_uncertainty_score":0.03677368,"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."}}