{"id":"W3083461542","doi":"10.24875/acme.m20000106","title":"Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina","year":2020,"lang":"es","type":"article","venue":"Archivos de cardiolog�a de M�xico (English ed Internet)","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Secretaría de Ciencia y Técnica, Universidad de Buenos Aires; Robarts Research Institute; Universidad de Buenos Aires; Sanofi; Amgen","keywords":"Familial hypercholesterolemia; Single-nucleotide polymorphism; PCSK9; Genetics; Apolipoprotein B; SNP; Gene duplication; Gene; Genetic diagnosis; Context (archaeology); Disease; LDL receptor; Biology; Medicine; Bioinformatics; Internal medicine; Genotype; Lipoprotein; Cholesterol","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":[0.0003094976,0.0004762845,0.0004540269,0.0006898663,0.0006459638,0.0003521172,0.0002119862,0.0003705943,0.003769829],"category_scores_gemma":[0.001271709,0.0001531421,0.0001791227,0.0005775231,0.0003303952,0.0001027082,0.0003182036,0.0002226257,0.0004068662],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004614778,"about_ca_system_score_gemma":0.0004240626,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01754817,"about_ca_topic_score_gemma":0.01331099,"domain_scores_codex":[0.9996849,0.00007787305,0.00002671844,0.00006933204,0.00007549515,0.00006574093],"domain_scores_gemma":[0.9996062,0.0000459187,0.0001100606,0.00002824502,0.00009462969,0.0001149959],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007417134,0.0002089598,0.955705,0.00008005961,0.00004790896,0.0260006,0.0006081234,0.00009435387,0.004132164,0.0004199302,0.002709487,0.009251638],"study_design_scores_gemma":[0.00007654301,0.0002431122,0.9522827,0.000064106,0.0000402882,0.04226172,0.0005356176,0.0002963505,0.0002470356,0.0002120035,0.003730277,0.0000102467],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992043,0.0004202831,0.0002204342,0.0002724705,0.00002316341,0.00004022173,0.0005937584,0.00001259266,0.006374105],"genre_scores_gemma":[0.9979393,0.0003147673,0.0002536603,0.00008430348,0.00002718298,0.00001536566,0.0005292274,0.000008459433,0.0008276986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01754817,"threshold_uncertainty_score":0.03489208,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01569147391524568,"score_gpt":0.2464794540822023,"score_spread":0.2307879801669566,"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."}}