{"id":"W4250757451","doi":"10.1042/0264-6021:3480621","title":"Characterization of β-galactosidase mutations Asp332→Asn and Arg148→Ser, and a polymorphism, Ser532→Gly, in a case of GM1 gangliosidosis","year":2000,"lang":"en","type":"article","venue":"Biochemical Journal","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Medical Research Council; Medical Research Council Canada; Hospital for Sick Children","keywords":"Gangliosidosis; Galactosidases; Polymorphism (computer science); Genetics; Chemistry; Molecular biology; Stereochemistry; Biochemistry; Biology; Genotype; Enzyme; Beta-galactosidase; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[],"consensus_categories":[],"category_scores_codex":[0.0001634042,0.0001015368,0.0001543687,0.0001189333,0.00004537744,0.00002163204,0.00006447946,0.0001317834,0.0001402548],"category_scores_gemma":[0.00008465829,0.00009499764,0.00004464551,0.0001584094,0.0001316174,0.00001113962,0.00003900725,0.0001332014,9.5167e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009350674,"about_ca_system_score_gemma":0.00005896075,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004757167,"about_ca_topic_score_gemma":0.0000121607,"domain_scores_codex":[0.9991665,0.00006400845,0.0003186135,0.0001701403,0.0001237153,0.0001570517],"domain_scores_gemma":[0.9995276,0.00001379171,0.0001031282,0.0001156138,0.0001013396,0.0001385026],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000193172,0.00007946901,0.0039055,0.00002677445,0.00002229171,0.00006067853,0.000108509,0.000001075791,0.9893289,0.000008162847,0.00003049315,0.006234931],"study_design_scores_gemma":[0.001128019,0.0001891251,0.0153976,0.00005118988,0.00001476286,0.001935968,0.00006288348,0.0001498961,0.9806172,0.00004010572,0.0003032189,0.000109993],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988105,0.0004976437,0.0001376786,0.0002871532,0.00001225319,0.0001267522,0.00004179177,0.000002328505,0.00008390236],"genre_scores_gemma":[0.998918,0.0005212362,0.0002690497,0.00004230921,0.00007131931,0.000006149695,0.00004900236,0.0000106087,0.0001123315],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0114921,"threshold_uncertainty_score":0.3873891,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007172182117617437,"score_gpt":0.2531207076872095,"score_spread":0.245948525569592,"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."}}