{"id":"W4402094283","doi":"10.1002/ajmg.a.63865","title":"<scp><i>PRKAG2</i></scp>‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review","year":2024,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Metabolism, Diabetes, and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"Hydrops fetalis; Medicine; Prenatal diagnosis; Cardiomyopathy; Glycogen storage disease; Fetus; Pathological; Etiology; Rare disease; Disease; Pregnancy; Heart failure; Pathology; Internal medicine; Biology; Genetics","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":[0.0003417097,0.0007101538,0.001143891,0.004451481,0.0002394431,0.0007446479,0.0007776245,0.0007278475,0.003298849],"category_scores_gemma":[0.0006461072,0.0002283938,0.0003910647,0.003820594,0.0003821271,0.001055952,0.0005645251,0.001053482,0.001713951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003711902,"about_ca_system_score_gemma":0.0009393821,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008064632,"about_ca_topic_score_gemma":0.001341515,"domain_scores_codex":[0.9998673,0.00001743005,0.00003244372,0.00002864137,0.00004101447,0.00001316887],"domain_scores_gemma":[0.9996573,0.00015411,0.00006458101,0.00001095306,0.00007263143,0.0000405606],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"case_report","study_design_scores_codex":[0.00008897283,0.000053434,0.0006935674,0.0202573,0.0001450583,0.002399997,0.00007437319,0.0003070888,0.001892072,0.001303675,0.03556237,0.9372221],"study_design_scores_gemma":[0.00002944887,0.0001099951,0.004642811,0.008377604,0.0004662574,0.04160368,0.0001738952,0.0001830362,0.0008148612,0.001526435,0.9420245,0.00004742106],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002506615,0.9982396,0.0001334491,0.0002303024,0.0001691001,0.000003998227,0.00002958257,0.000009088913,0.0009341237],"genre_scores_gemma":[0.0010975,0.9979572,0.0002080738,0.0001316348,0.0002016577,0.000004508836,0.00006334883,0.000002038109,0.0003339766],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004451481,"threshold_uncertainty_score":0.01103574,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01387177582712243,"score_gpt":0.3269313349206054,"score_spread":0.313059559093483,"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."}}