{"id":"W4409569392","doi":"10.3390/genes16040465","title":"Barth Syndrome: TAFAZZIN Gene, Cardiologic Aspects, and Mitochondrial Studies—A Comprehensive Narrative Review","year":2025,"lang":"en","type":"review","venue":"Genes","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Alberta; University of Ottawa","funders":"Hubei University; Natural Science Foundation of Hubei Province; Austrian Science Fund; Children's Health Research Institute; Women and Children's Health Research Institute; Canadian Institutes of Health Research; Hubei University of Technology; Cancer Research Society; Children's Hospital Foundation; Stollery Children’s Hospital Foundation; Cancer Research Institute","keywords":"Proband; Disease; Heart disease; Cardiomyopathy; Hypertrophic cardiomyopathy; Medicine; Gene; Genetics; Heart failure; Immunology; Biology; Bioinformatics; Cardiology; Internal medicine; Mutation","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":[0.0004588477,0.0007455109,0.0009976428,0.003600774,0.0003006393,0.0009404388,0.0007590081,0.0008466133,0.003760292],"category_scores_gemma":[0.001381619,0.0002113204,0.0004499228,0.002852115,0.0003252349,0.001279617,0.0006504401,0.0012395,0.001088997],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005287094,"about_ca_system_score_gemma":0.001342102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001003387,"about_ca_topic_score_gemma":0.001932884,"domain_scores_codex":[0.9998399,0.00003528669,0.00003455446,0.0000249422,0.00005064835,0.00001460064],"domain_scores_gemma":[0.9993883,0.0003566386,0.00009112611,0.00001442548,0.0001079881,0.00004151261],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00009244479,0.00006389304,0.0004797548,0.04441805,0.0001882178,0.001325155,0.0002221799,0.0003830783,0.00125554,0.004619864,0.1054836,0.8414683],"study_design_scores_gemma":[0.0000152722,0.00007363839,0.001352187,0.01718253,0.0002649065,0.008571966,0.0001856978,0.00008554675,0.0001924905,0.002046499,0.9700027,0.00002659833],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001051212,0.9984963,0.00006630613,0.0003630874,0.0002776427,0.000003293867,0.0000223237,0.000005459837,0.0006604873],"genre_scores_gemma":[0.0006828103,0.9981987,0.0001512022,0.0002845255,0.000332855,0.000004663109,0.00004731669,0.000001341853,0.0002966961],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003760292,"threshold_uncertainty_score":0.01257938,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04489165976456971,"score_gpt":0.346866928092084,"score_spread":0.3019752683275143,"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."}}