{"id":"W2042740118","doi":"10.1007/s100380070034","title":"Molecular and structural studies of Japanese patients with sialidosis type 1","year":2000,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Tokyo Metropolitan Government","keywords":"Missense mutation; Neuraminidase; Endoplasmic reticulum; Biology; Mutant; Golgi apparatus; Phenotype; Mutation; Wild type; Enzyme; Gene; Genetics; Biochemistry; Molecular biology","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":[0.0003111203,0.001017367,0.000668299,0.001804595,0.001686703,0.0006714413,0.0005286643,0.0007226542,0.001647576],"category_scores_gemma":[0.001031,0.0006174292,0.0006411554,0.001827367,0.0007770023,0.0005075611,0.000545122,0.0004170485,0.0002044584],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005423605,"about_ca_system_score_gemma":0.0004686503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01249831,"about_ca_topic_score_gemma":0.006471257,"domain_scores_codex":[0.9996904,0.00003441571,0.00006526322,0.00008354636,0.00004441712,0.00008188489],"domain_scores_gemma":[0.999564,0.00007850134,0.0001268366,0.00002516744,0.00007235407,0.0001331568],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002107441,0.000321233,0.7347841,0.0001896485,0.0003655491,0.113337,0.006776388,0.0004156364,0.1306647,0.0006364319,0.0005306366,0.009871205],"study_design_scores_gemma":[0.0001117866,0.0004441162,0.8955091,0.00001654831,0.0007056457,0.09074868,0.003582938,0.0005411684,0.005901367,0.0002988134,0.002086484,0.00005329102],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992478,0.0001620971,0.00006177977,0.00005043024,0.000006422973,0.000005021435,0.00006233875,0.000002393893,0.0004016124],"genre_scores_gemma":[0.9994185,0.0001652776,0.00009845076,0.00004042665,0.00001401616,0.000003912425,0.00009416877,0.000003596789,0.0001615588],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01249831,"threshold_uncertainty_score":0.02485114,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0251834024510176,"score_gpt":0.3287132724788017,"score_spread":0.3035298700277841,"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."}}