{"id":"W1985922456","doi":"10.3109/13506120308995255","title":"First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation","year":2003,"lang":"en","type":"article","venue":"Amyloid","topic":"Amyloidosis: Diagnosis, Treatment, Outcomes","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Institute of Musculoskeletal Health and Arthritis","keywords":"Transthyretin; Polyneuropathy; Mutation; Medicine; Cardiomyopathy; Amyloidosis; Amyloid polyneuropathy; Internal medicine; Genetics; Pediatrics; Gastroenterology; Age of onset; Gene; Biology; Heart failure; Disease","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"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":[0.000333355,0.001614722,0.001121358,0.0007211008,0.001505808,0.0005304084,0.0004461048,0.001379307,0.003251228],"category_scores_gemma":[0.001595079,0.0004590359,0.0007361535,0.0005601854,0.0005675818,0.0003618518,0.0008101815,0.0009853875,0.000960019],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004971151,"about_ca_system_score_gemma":0.0005693514,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007489501,"about_ca_topic_score_gemma":0.006619891,"domain_scores_codex":[0.9997594,0.00004344514,0.00002177113,0.00007708907,0.00003792805,0.00006037579],"domain_scores_gemma":[0.9993555,0.0001691362,0.00008015875,0.00005503763,0.00009760777,0.0002425502],"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":[0.0002020376,0.0002696417,0.04916231,0.00009784727,0.00008995855,0.9265577,0.001340947,0.0001814911,0.009194097,0.0003170485,0.002578035,0.01000881],"study_design_scores_gemma":[0.0001032743,0.000305158,0.04324178,0.00003606504,0.00007006937,0.9479972,0.000469337,0.0002094432,0.001232767,0.0003097074,0.005982652,0.00004258231],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9734582,0.00342259,0.003120505,0.002830204,0.0003986744,0.0001084149,0.0008824554,0.0002602303,0.01551862],"genre_scores_gemma":[0.9900553,0.001703314,0.001008552,0.001549386,0.0003374742,0.00003361304,0.0002867607,0.0000942002,0.004931351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007489501,"threshold_uncertainty_score":0.0148918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008996787595886997,"score_gpt":0.2274283541988835,"score_spread":0.2184315666029966,"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."}}