{"id":"W2082788920","doi":"10.1016/j.ejmg.2006.01.006","title":"SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations","year":2006,"lang":"en","type":"article","venue":"European Journal of Medical Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Mutation; Genetics; Biology; Gene; Internal medicine; Medicine; Reductase; Enzyme; Biochemistry","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001035011,0.0001252835,0.0002998717,0.0001304181,0.00004351892,0.00002681429,0.0001315304,0.00005705592,0.00006151361],"category_scores_gemma":[0.0004643797,0.00009835115,0.00008474944,0.0000947822,0.0001048855,0.00003908521,0.00002942149,0.0003264588,0.000002579989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001265339,"about_ca_system_score_gemma":0.0001209118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001743206,"about_ca_topic_score_gemma":0.00001056117,"domain_scores_codex":[0.9982958,0.0001636686,0.0006436773,0.0001339188,0.0005513585,0.0002115772],"domain_scores_gemma":[0.9991174,0.0001063947,0.0001779607,0.0001053379,0.0001087605,0.0003841275],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0008880107,0.0008674163,0.1227703,0.0003259655,0.0002649674,0.003883444,0.002758294,0.00008547436,0.08041519,0.0001749107,0.02130374,0.7662623],"study_design_scores_gemma":[0.03373526,0.002701216,0.6475996,0.001233687,0.0006927316,0.004905818,0.0005250009,0.002095114,0.002886262,0.0009038752,0.3021851,0.0005363067],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983004,0.004839446,0.007272133,0.003451288,0.0002365596,0.0001627271,0.00001914186,0.000007634897,0.001007042],"genre_scores_gemma":[0.9897578,0.0003982292,0.007090812,0.0009264721,0.001404935,0.00000129028,0.00001572558,0.00003670083,0.0003680282],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.765726,"threshold_uncertainty_score":0.4010643,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01754885488866645,"score_gpt":0.283893355488888,"score_spread":0.2663445006002215,"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."}}