{"id":"W2091714008","doi":"10.1038/jhg.2011.78","title":"Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population","year":2011,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"HEXA; Tay-Sachs disease; Nonsense mutation; Genetics; Mutation; Nonsense; Allele; Founder effect; Population; Biology; Statistical genetics; Medicine; Disease; Gene; Missense mutation; Haplotype; Cytogenetics; Chromosome; Internal medicine","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":[0.0004034562,0.001165346,0.0004604667,0.002162229,0.0009128103,0.0005814758,0.0006316099,0.000930547,0.003418842],"category_scores_gemma":[0.001440768,0.0002841501,0.0004436862,0.0007783985,0.0008918309,0.0003065256,0.0005997422,0.000455673,0.0003335404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004138446,"about_ca_system_score_gemma":0.0003846795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003975692,"about_ca_topic_score_gemma":0.003160003,"domain_scores_codex":[0.9996457,0.00005511908,0.00005113281,0.0001031186,0.0000790468,0.00006587013],"domain_scores_gemma":[0.9994467,0.000189059,0.0001085665,0.00005449881,0.00007483345,0.0001264397],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002215649,0.0004251806,0.6619154,0.00008512318,0.0002933296,0.2029399,0.006562671,0.0005354414,0.09007428,0.001559779,0.0009552288,0.03243808],"study_design_scores_gemma":[0.0002761711,0.0008983496,0.7948493,0.00005927347,0.00027262,0.1810938,0.003801279,0.00132863,0.01278852,0.0009092083,0.003629458,0.00009328013],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989617,0.0001021848,0.0001946909,0.00006846173,0.00001822606,0.00001211369,0.00006249034,0.00000682154,0.0005732615],"genre_scores_gemma":[0.9991997,0.00005569269,0.0002327821,0.00007407553,0.00001730232,0.000004819845,0.00006490912,0.000004236584,0.0003466559],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003975692,"threshold_uncertainty_score":0.01143712,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05546705763197909,"score_gpt":0.3627726494012194,"score_spread":0.3073055917692403,"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."}}