{"id":"W4387077079","doi":"10.1080/13506129.2023.2260537","title":"Intra-familial variability of oculoleptomeningeal amyloidosis due to the ATTR I107M (c.381T > G) mutation: diagnostic challenges of a rare phenotype","year":2023,"lang":"en","type":"article","venue":"Amyloid","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Phenotype; Mutation; Informed consent; Amyloidosis; Medicine; Psychology; Genetics; Internal medicine; Pathology; Biology; Alternative medicine; 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":[0.0003402867,0.0005261262,0.0004348112,0.0005864224,0.0004651934,0.000469577,0.0003224835,0.0005497712,0.001557352],"category_scores_gemma":[0.001891203,0.0001529883,0.0002017484,0.0004265916,0.0004405586,0.0003438303,0.0004988522,0.0004316585,0.0004245239],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001755644,"about_ca_system_score_gemma":0.0001964752,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006787165,"about_ca_topic_score_gemma":0.0008183288,"domain_scores_codex":[0.9996715,0.00005684505,0.00004145924,0.00008567309,0.00009058292,0.00005400027],"domain_scores_gemma":[0.9987906,0.0004368041,0.000379722,0.0000953687,0.00008724391,0.0002103713],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0004907447,0.0001824781,0.5080672,0.00008442783,0.0001264553,0.4310043,0.0008206742,0.0004455397,0.02476414,0.0008503935,0.002101661,0.03106206],"study_design_scores_gemma":[0.00002041987,0.0001590168,0.3124279,0.00004909023,0.00007155116,0.6819555,0.0003942115,0.0005227376,0.002036503,0.0009670593,0.001367328,0.00002872534],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945707,0.0005830035,0.001007233,0.0002994931,0.00002226318,0.00001117843,0.0001376602,0.00004368007,0.003324794],"genre_scores_gemma":[0.9993498,0.0001166532,0.0002040229,0.00006830712,0.00004882644,0.000003369885,0.00005437278,0.0000123756,0.0001422093],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001557352,"threshold_uncertainty_score":0.005209863,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01551684492525199,"score_gpt":0.2634899060020519,"score_spread":0.2479730610767999,"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."}}