{"id":"W2058825456","doi":"10.1006/mgme.2001.3215","title":"Heterologous Expression and Characterization of a Rare Gaucher Disease Mutation (c.481C > T) from a Canadian Aboriginal Population Using Archival Tissue Samples","year":2001,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":6,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; University of Victoria","funders":"","keywords":"Glucocerebrosidase; Enzyme replacement therapy; Biology; Glucocerebroside; Mutation; Population; Genotype; Genetics; Exome sequencing; Lysosomal storage disease; Compound heterozygosity; Disease; Gene; Molecular biology; Medicine; Pathology; Enzyme; Biochemistry","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000460185,0.0001173824,0.0001896928,0.0001625703,0.00006784088,0.00002786656,0.00003737701,0.00005707234,0.00002224198],"category_scores_gemma":[0.00003121461,0.0001129587,0.00002672274,0.0001023064,0.00004720307,0.00004451274,0.00002196988,0.00007095381,4.202072e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002135916,"about_ca_system_score_gemma":0.00009533026,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01892762,"about_ca_topic_score_gemma":0.001092745,"domain_scores_codex":[0.9991084,0.00007397768,0.0001677117,0.0002358575,0.0002208081,0.0001932971],"domain_scores_gemma":[0.9993789,0.000008415293,0.00005896132,0.0001513518,0.00007931078,0.0003231112],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000120759,0.0000387022,0.04273095,0.00003106411,0.00002232171,0.0001385944,0.0002974861,0.00003901846,0.9366528,0.00003915854,8.600684e-7,0.01988823],"study_design_scores_gemma":[0.0008216057,0.0000388799,0.9741035,0.00004821238,0.0001294677,0.00002469613,0.00002060325,0.003543792,0.01911929,0.0003849412,0.001655968,0.0001091215],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922718,0.003182058,0.003896981,0.000119507,0.00004401837,0.0003344434,0.0001305061,0.000007994246,0.00001272442],"genre_scores_gemma":[0.9956864,0.0007087592,0.002534204,0.0001219917,0.00006707694,0.000007508136,0.000839348,0.00002264396,0.00001209585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9313725,"threshold_uncertainty_score":0.9876055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01488539058270778,"score_gpt":0.2872759814889577,"score_spread":0.27239059090625,"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."}}