{"id":"W2056229780","doi":"10.1002/ajmg.10211","title":"Smith‐Lemli‐Opitz syndrome: New mutation with a mild phenotype","year":2002,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Cholesterol and Lipid Metabolism","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Hamilton Regional Laboratory Medicine Program; University of Manitoba","funders":"","keywords":"Smith–Lemli–Opitz syndrome; Missense mutation; Compound heterozygosity; Syndactyly; Phenotype; Failure to thrive; Mutation; Null allele; Genetics; Internal medicine; Biology; Endocrinology; Hypocholesterolemia; Exome sequencing; Cholesterol; 7-Dehydrocholesterol reductase; Medicine; Reductase; Gene; Biochemistry; Enzyme","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0002825281,0.000162375,0.0005469526,0.0001427247,0.00003205646,0.00001847773,0.0002140964,0.00007512116,0.0009570058],"category_scores_gemma":[0.0001448542,0.0001092409,0.0001095575,0.0003925457,0.0003109941,0.00004353803,0.00002007499,0.0005294945,0.00004245652],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003174954,"about_ca_system_score_gemma":0.000292565,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003243602,"about_ca_topic_score_gemma":0.000005225245,"domain_scores_codex":[0.9974954,0.00006911683,0.0005097467,0.0001497541,0.001511991,0.0002640328],"domain_scores_gemma":[0.998183,0.00007579027,0.000379198,0.0002093389,0.0001645831,0.0009881494],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005700722,0.0004284757,0.006080188,0.00004966863,0.0003457711,0.001785672,0.002584583,0.00005440729,0.0001737557,0.00002415751,0.01107553,0.9768277],"study_design_scores_gemma":[0.03507609,0.02582809,0.2592058,0.002443725,0.002436888,0.06411977,0.003057461,0.003915154,0.0007062795,0.0001581628,0.6020861,0.0009664522],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9808462,0.004919807,0.003790989,0.009668964,0.0003333364,0.0001085959,0.000001418599,0.00001451539,0.0003161628],"genre_scores_gemma":[0.9805589,0.003017922,0.01105348,0.003390244,0.00125777,0.000001224633,0.000001801629,0.00003498908,0.000683723],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9758613,"threshold_uncertainty_score":0.9999563,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01753998282823072,"score_gpt":0.2654114054383485,"score_spread":0.2478714226101177,"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."}}