{"id":"W7029005919","doi":"","title":"Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant","year":2019,"lang":"en","type":"article","venue":"Scientific Repository of the National Health Institute Doutor Ricardo Jorge (Instituto Nacional de Saúde Doutor Ricardo Jorge)","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Haplotype; Amyloidosis; Mutation; Fibrinogen; Portuguese; Gene; Exon; Disease","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":[0.0003476386,0.0003368964,0.0003236472,0.0008039595,0.000739851,0.000332034,0.0002157545,0.0003243245,0.001629711],"category_scores_gemma":[0.002462144,0.0002322072,0.0002778349,0.0006555885,0.0003075958,0.0001429687,0.0003579226,0.0002592823,0.0001921897],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003203465,"about_ca_system_score_gemma":0.0002808058,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01256345,"about_ca_topic_score_gemma":0.01141575,"domain_scores_codex":[0.9996775,0.00007348978,0.00003254884,0.000100819,0.00005034677,0.00006530809],"domain_scores_gemma":[0.9991987,0.0002175109,0.0002271043,0.00008534983,0.0001059373,0.0001653419],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004187193,0.0001293503,0.9798386,0.00002591616,0.00006329094,0.006289638,0.001944855,0.00008698655,0.005487013,0.0000811997,0.000143122,0.005491426],"study_design_scores_gemma":[0.00003052701,0.0002878981,0.9840981,0.00002604354,0.00006781089,0.01301975,0.0008712561,0.0002639048,0.0003874813,0.00009640399,0.0008393032,0.00001150922],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9993804,0.00005647069,0.00009382481,0.00001649057,0.000002221287,0.000008986892,0.000119135,0.000001279777,0.0003211041],"genre_scores_gemma":[0.9994816,0.0000702278,0.0001401581,0.00001602573,0.000003920524,0.000008367981,0.0001650526,0.000002804117,0.0001117058],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01256345,"threshold_uncertainty_score":0.0249806,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01125385579984246,"score_gpt":0.2644960504821477,"score_spread":0.2532421946823053,"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."}}