{"id":"W2008626955","doi":"10.1002/humu.20702","title":"K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Plant biochemistry and biosynthesis","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Université du Québec à Chicoutimi; McGill University and Génome Québec Innovation Centre; McGill University","funders":"","keywords":"Farnesyl-diphosphate farnesyltransferase; Squalene; Biology; Cholesterol; Genetics; Population; Single-nucleotide polymorphism; Squalene monooxygenase; ATP synthase; Gene; Biochemistry; Enzyme; Molecular biology; Farnesyltransferase; Biosynthesis; Genotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001246631,0.0001278606,0.0001513108,0.00008350457,0.0000980956,0.0000111054,0.00009405988,0.00008036788,0.00005446637],"category_scores_gemma":[0.0001009632,0.0001339383,0.00004643501,0.00007411378,0.00003468034,0.000008859085,0.00002197287,0.00005060828,0.000002439707],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003502187,"about_ca_system_score_gemma":0.00008071883,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.3967554,"about_ca_topic_score_gemma":0.3177081,"domain_scores_codex":[0.9990725,0.00009735113,0.0002743631,0.0002825459,0.0001192988,0.0001539412],"domain_scores_gemma":[0.9995492,0.0000246365,0.0001069967,0.0001965389,0.00004186915,0.0000808161],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004118431,0.0004551959,0.2542672,0.00001613971,0.00006835625,0.00008022283,0.000476752,0.0002023134,0.7432253,0.000006433278,0.00005637111,0.001104534],"study_design_scores_gemma":[0.0006556738,0.0001092544,0.8507124,0.00002417559,0.00002345351,0.00003705638,0.0001528111,0.00004038188,0.1480638,0.00003456976,0.000008885871,0.0001375221],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990672,0.00006025823,0.00004103794,0.00001122842,0.00002338497,0.0001968181,0.0005146555,0.000006600764,0.00007885203],"genre_scores_gemma":[0.9978534,0.000003178464,0.0001334312,0.00002790232,0.00009989008,0.00001645652,0.001824193,0.000009615014,0.00003190766],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5964452,"threshold_uncertainty_score":0.694742,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.031606369790245,"score_gpt":0.2783865141029399,"score_spread":0.2467801443126949,"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."}}