{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001523373,0.001268234,0.0005968061,0.001007479,0.0004834682,0.0003634287,0.0004695419,0.001062963,0.002538305],"category_scores_gemma":[0.001294401,0.00033751,0.0003983186,0.0004763585,0.0007320896,0.0003098929,0.0008199833,0.0005177815,0.0004925951],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003247951,"about_ca_system_score_gemma":0.0003271028,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001045996,"about_ca_topic_score_gemma":0.001509471,"domain_scores_codex":[0.9997557,0.00002546343,0.0000271141,0.00006757578,0.00007838195,0.00004568557],"domain_scores_gemma":[0.9995911,0.0000946307,0.00009980515,0.00002291155,0.0000303529,0.0001611964],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004697469,0.0001194762,0.05001367,0.0002695399,0.0001159026,0.8093713,0.001100681,0.0003003401,0.1040696,0.001684095,0.002144906,0.03034079],"study_design_scores_gemma":[0.00006202034,0.000243475,0.04669953,0.00002557256,0.0000726567,0.9403681,0.0001110271,0.0005262211,0.007407632,0.0004790816,0.003968985,0.00003573348],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992752,0.001000726,0.001792652,0.0003873036,0.00006179109,0.00004680032,0.0003150292,0.000222029,0.003421659],"genre_scores_gemma":[0.9947478,0.000473223,0.002446252,0.0001414666,0.0001347591,0.00002909278,0.0002199049,0.00003479374,0.001772863],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002538305,"threshold_uncertainty_score":0.008491457,"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."}}