{"id":"W4307042221","doi":"10.1159/000526022","title":"Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency","year":2022,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"","keywords":"Hypertrophic cardiomyopathy; Medicine; Prenatal diagnosis; Intrauterine growth restriction; Presentation (obstetrics); Cardiomyopathy; Pediatrics; Mitochondrial respiratory chain; Pregnancy; Genetic counseling; Obstetrics; Fetus; Internal medicine; Heart failure; Genetics; Mitochondrion; Biology","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":[0.0002209541,0.0006779032,0.0003815654,0.0007191172,0.0004001973,0.0003580765,0.0005085332,0.001263702,0.001085349],"category_scores_gemma":[0.002624516,0.0003530415,0.0002663374,0.0003291295,0.0007271632,0.0002657413,0.0006284119,0.000875955,0.0002574282],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003521125,"about_ca_system_score_gemma":0.0002736945,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007802043,"about_ca_topic_score_gemma":0.0006122505,"domain_scores_codex":[0.9997157,0.00005525758,0.00003591053,0.00006443013,0.00005589251,0.00007274417],"domain_scores_gemma":[0.998877,0.0004944127,0.0002992168,0.00008831684,0.0000405216,0.000200591],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000444937,0.00001309407,0.02059539,0.00004269819,0.000008627817,0.9740384,0.0001164135,0.00007264197,0.002779804,0.00009553489,0.0001504838,0.002042273],"study_design_scores_gemma":[0.00001042284,0.00005445578,0.01944948,0.00001967081,0.00001110452,0.9789459,0.00005579349,0.0001197495,0.000926215,0.0001034695,0.0002979948,0.000005722577],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9898571,0.002769286,0.0013612,0.0008056422,0.0001216438,0.00003712456,0.00009926172,0.00007700923,0.004871712],"genre_scores_gemma":[0.9988202,0.0004050475,0.0002253075,0.0001460082,0.0001499465,0.000004507527,0.00002960768,0.000005578653,0.000213762],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001263702,"threshold_uncertainty_score":0.003630817,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01032406355880428,"score_gpt":0.2267836937001679,"score_spread":0.2164596301413637,"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."}}