{"id":"W3081055933","doi":"10.1002/ajmg.a.61799","title":"Missense variants in the spectrin repeat domain of <scp><i>DSP</i></scp> are associated with arrhythmogenic cardiomyopathy: A family report and systematic review","year":2020,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Cardiovascular Effects of Exercise","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institut universitaire de cardiologie et de pneumologie de Québec; Université de Montréal; Montreal Heart Institute","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Sociedad Española de Cardiología","keywords":"Missense mutation; Desmoplakin; Cardiomyopathy; Dilated cardiomyopathy; Medicine; Internal medicine; Phenotype; Cardiology; Genetics; Heart failure; Biology; Gene","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":[0.0009599033,0.0005495606,0.002045048,0.007060127,0.000235949,0.0007117382,0.0006903717,0.0006627688,0.003364711],"category_scores_gemma":[0.003736487,0.0002755885,0.0013583,0.006867491,0.000328238,0.0006609036,0.0005210832,0.0003628115,0.000401857],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005016611,"about_ca_system_score_gemma":0.002050221,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00195787,"about_ca_topic_score_gemma":0.005825417,"domain_scores_codex":[0.9993296,0.0001105347,0.0002991795,0.0000872567,0.0001465947,0.00002687879],"domain_scores_gemma":[0.9965094,0.00224082,0.0007977568,0.00004844529,0.0003360045,0.00006764578],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0002147088,0.00003416028,0.004423518,0.6024318,0.003629663,0.001247242,0.0002800618,0.0001517928,0.001081736,0.0005135768,0.01403729,0.3719544],"study_design_scores_gemma":[0.0001898454,0.000338713,0.04738166,0.5993009,0.04351819,0.02088536,0.0007179505,0.0001867505,0.0009959422,0.00105751,0.285325,0.000102187],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0006746659,0.998692,0.00003456295,0.000124347,0.00004552243,0.00001373144,0.000193286,0.000003389312,0.0002186096],"genre_scores_gemma":[0.00380455,0.9956393,0.0001209207,0.0001556167,0.00004656344,0.00001585711,0.0001412651,0.000001637283,0.00007419622],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.007060127,"threshold_uncertainty_score":0.0112561,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01676000648221617,"score_gpt":0.2890588113187398,"score_spread":0.2722988048365236,"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."}}