{"id":"W7096239600","doi":"","title":"ELECTRONIC LETTER Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada","year":2016,"lang":"en","type":"article","venue":"","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Syndactyly; Smith–Lemli–Opitz syndrome; Chromosome; Gene; Mutation; Broad spectrum","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.00008823516,0.0005178672,0.0002997858,0.001277335,0.001110238,0.0005520026,0.000741397,0.001618228,0.05656955],"category_scores_gemma":[0.001000784,0.0002203075,0.0002105499,0.0008913077,0.0006292352,0.000301853,0.0004376228,0.0005184552,0.003961465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001569131,"about_ca_system_score_gemma":0.001167749,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1837494,"about_ca_topic_score_gemma":0.1264549,"domain_scores_codex":[0.9997427,0.00001335248,0.00001969699,0.00006056988,0.00008436422,0.00007930138],"domain_scores_gemma":[0.9995304,0.00009786974,0.00004642859,0.00001806411,0.0001544568,0.0001528056],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005326851,0.0002740558,0.2697499,0.0001242938,0.00005506779,0.6244346,0.0008550319,0.0003157415,0.006950486,0.001702272,0.0592342,0.03577161],"study_design_scores_gemma":[0.0001718051,0.0002544967,0.2327946,0.0001966059,0.00005946899,0.7124924,0.001634181,0.001476991,0.00133273,0.001376455,0.04812838,0.0000818699],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8647346,0.002067106,0.0009903309,0.01549709,0.001431878,0.000230782,0.004476059,0.0001655754,0.1104066],"genre_scores_gemma":[0.964377,0.000944133,0.0005357225,0.002855277,0.0005736816,0.00001960301,0.0009157198,0.00006814887,0.02971086],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8162506,"threshold_uncertainty_score":0.3653597,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004758759304295882,"score_gpt":0.2013982108750867,"score_spread":0.1966394515707908,"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."}}