{"id":"W4283466862","doi":"10.1186/s13256-022-03437-0","title":"Hereditary transthyretin amyloidosis: a case report","year":2022,"lang":"en","type":"article","venue":"Journal of Medical Case Reports","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto General Hospital; University of Toronto; University Health Network; South Health Campus; Libin Cardiovascular Institute of Alberta; University of Calgary","funders":"","keywords":"Medicine; Transthyretin; Amyloidosis; Disease; Genetic testing; Cardiomyopathy; Gene mutation; Pathology; Pediatrics; Bioinformatics; Internal medicine; Mutation; Heart failure; Gene","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":[0.0006955827,0.003928156,0.002463968,0.004405543,0.004268406,0.0032908,0.001805255,0.006771588,0.002755716],"category_scores_gemma":[0.003133258,0.002143642,0.002080219,0.003200275,0.00266455,0.003244989,0.003421658,0.004203184,0.001528714],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001590181,"about_ca_system_score_gemma":0.001072211,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002114925,"about_ca_topic_score_gemma":0.001917509,"domain_scores_codex":[0.9985119,0.0001615075,0.0001969024,0.0004459509,0.0002265933,0.0004571677],"domain_scores_gemma":[0.9975173,0.0005871851,0.0005982883,0.0002585069,0.0001922895,0.0008463885],"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":[0.00001185957,0.00002579698,0.001783525,0.00002487676,0.000008358393,0.9969711,0.0001297471,0.00003280164,0.0002698877,0.000061214,0.0001780603,0.0005026736],"study_design_scores_gemma":[0.000005261089,0.0000182457,0.0008703226,0.00001011198,0.00000875977,0.9985725,0.00007386543,0.00007309571,0.00008090388,0.00006044944,0.0002205505,0.000005942858],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9541757,0.02125923,0.006685572,0.003653822,0.0009617002,0.0003896509,0.0004171722,0.0004578973,0.01199912],"genre_scores_gemma":[0.9903542,0.003948895,0.001951944,0.0007548157,0.001525175,0.00006212175,0.0001451773,0.00004552434,0.001212104],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006771588,"threshold_uncertainty_score":0.01153761,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01187489254881541,"score_gpt":0.2887973837168991,"score_spread":0.2769224911680837,"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."}}