{"id":"W3126290524","doi":"10.3389/fgene.2021.625959","title":"Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia","year":2021,"lang":"en","type":"article","venue":"Frontiers in Genetics","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Clinical Research Institute","funders":"Canadian Institutes of Health Research; National Science Foundation","keywords":"PCSK9; Familial hypercholesterolemia; LDL receptor; Genetics; Apolipoprotein B; Biology; Exon; Gene; Mutation; Single-nucleotide polymorphism; Intron; Cholesterol; Lipoprotein; Endocrinology; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002306973,0.0005071481,0.0002744565,0.001207196,0.0005747563,0.0002142478,0.0002540401,0.0004768253,0.001274846],"category_scores_gemma":[0.001148207,0.0001901454,0.0002906928,0.0004695643,0.000358554,0.0001210667,0.0002678521,0.0002164867,0.0001426425],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001962337,"about_ca_system_score_gemma":0.0002204564,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002108722,"about_ca_topic_score_gemma":0.001662341,"domain_scores_codex":[0.9997692,0.00004491509,0.0000302224,0.00006343964,0.00005313735,0.00003913143],"domain_scores_gemma":[0.9997479,0.00005901398,0.00009218992,0.00001646937,0.00003386232,0.00005050969],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004092305,0.0001160158,0.9473919,0.00003994224,0.00007219993,0.02699798,0.001541526,0.0001425306,0.01386719,0.0001657217,0.0002444016,0.009011284],"study_design_scores_gemma":[0.00004452284,0.0003735532,0.9277271,0.00002185517,0.000103555,0.06837692,0.0007312533,0.0003612173,0.001568343,0.0001340194,0.0005424251,0.00001516645],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999606,0.0001239603,0.00005208458,0.00001316636,0.00000272527,0.000004546497,0.00001877901,0.000002657883,0.000176064],"genre_scores_gemma":[0.999696,0.00007445506,0.00009899504,0.0000222757,0.000006445377,0.000003210022,0.00003605157,0.000001071389,0.00006151351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002108722,"threshold_uncertainty_score":0.004264832,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005554880038350933,"score_gpt":0.2060006664517309,"score_spread":0.20044578641338,"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."}}