{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002404738,0.0004366069,0.0004534956,0.002106842,0.0005421824,0.0005678285,0.0002713664,0.0004280744,0.004304674],"category_scores_gemma":[0.0009320754,0.000260211,0.0002880012,0.0009628517,0.0005216651,0.0002264465,0.0006068803,0.0002623021,0.0006513188],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002415824,"about_ca_system_score_gemma":0.0003422694,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005337734,"about_ca_topic_score_gemma":0.002806621,"domain_scores_codex":[0.9996796,0.00004296284,0.00005345746,0.0000825637,0.0000521693,0.00008916178],"domain_scores_gemma":[0.9995911,0.00006323585,0.0001493968,0.00002138306,0.00005102709,0.0001238638],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002434933,0.000260854,0.9521133,0.00006447064,0.0001240727,0.013479,0.001117961,0.0001316943,0.01782895,0.0004275374,0.0006157202,0.0114016],"study_design_scores_gemma":[0.0001237152,0.0006652812,0.9761708,0.0000393523,0.0001501784,0.01792633,0.001078938,0.0003998046,0.001647763,0.0001916734,0.001587033,0.00001904505],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991702,0.00008772384,0.00006396065,0.00002356853,0.000003624326,0.000005952537,0.0001273235,0.00000568318,0.0005121134],"genre_scores_gemma":[0.9990354,0.0001211741,0.00008906354,0.00001645397,0.000004911748,0.000006628934,0.00017305,0.000004528885,0.0005489176],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005337734,"threshold_uncertainty_score":0.0144006,"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."}}