{"id":"W4388594421","doi":"10.1093/eurheartj/ehad655.1885","title":"Predominance of a rare transthyretin mutation (p.Asp38Glu) in patients with hATTR cardiomyopathy: initial data from the Croatian Transthyretin Cardiac Amyloidosis Registry (CroATTR)","year":2023,"lang":"en","type":"article","venue":"European Heart Journal","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Medicine; Amyloidosis; Transthyretin; Restrictive cardiomyopathy; Cardiac amyloidosis; Cardiomyopathy; Internal medicine; Pediatrics; Penetrance; Heart failure; Phenotype; Genetics","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001591797,0.0002314835,0.0006462171,0.00219832,0.0005384348,0.0009918616,0.0004763392,0.000447055,0.002021964],"category_scores_gemma":[0.002984991,0.0002720731,0.000355148,0.001510824,0.0003020655,0.0004130921,0.000714007,0.0006581942,0.0005040877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00043112,"about_ca_system_score_gemma":0.0009430646,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01246309,"about_ca_topic_score_gemma":0.0108653,"domain_scores_codex":[0.9983007,0.0003167067,0.0002244161,0.0004803272,0.0004654693,0.0002123228],"domain_scores_gemma":[0.9965479,0.0004517661,0.0009038213,0.0004192367,0.001059969,0.0006173568],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002050122,0.00006451629,0.9957188,0.0000375803,0.00003604352,0.000342524,0.0001290499,0.00004629479,0.0002282189,0.00002976807,0.0006865005,0.002475731],"study_design_scores_gemma":[0.00002119625,0.00007628412,0.9975492,0.00004136601,0.00002183089,0.0009830927,0.0002734983,0.0001048687,0.00005817975,0.00001481133,0.0008486509,0.000007029201],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937997,0.0005301978,0.0001602329,0.00007819982,0.00002696947,0.00007125275,0.004091435,0.00001209154,0.001229815],"genre_scores_gemma":[0.9928356,0.0002606495,0.0002402892,0.0000769352,0.00004402732,0.00004229473,0.006259194,0.00001102745,0.0002299241],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01246309,"threshold_uncertainty_score":0.02478111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02955714885535638,"score_gpt":0.2781381054875138,"score_spread":0.2485809566321575,"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."}}