{"id":"W2117689475","doi":"10.1002/ajmg.a.10710","title":"Clinical variability of type II sialidosis by C808T mutation","year":2003,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Mutation; Neuraminidase; Genetics; Biology; Gene; Pediatrics; 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":[0.0003150901,0.001189943,0.0007681861,0.001385965,0.0007379914,0.0007184069,0.0004570686,0.001047819,0.00153143],"category_scores_gemma":[0.002436138,0.0003399202,0.0003670321,0.0009025706,0.0008719595,0.0003950677,0.0008508335,0.0005828589,0.000446513],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002843216,"about_ca_system_score_gemma":0.0003239843,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001400552,"about_ca_topic_score_gemma":0.001080875,"domain_scores_codex":[0.9993691,0.00008130672,0.00008344388,0.0002296249,0.00009709947,0.0001395665],"domain_scores_gemma":[0.998848,0.0003551079,0.0002899157,0.0000664705,0.0001221342,0.0003183159],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008528305,0.00011582,0.5678166,0.00006611092,0.00007711021,0.3849697,0.001385132,0.0004164297,0.03443363,0.0004051109,0.001009385,0.008452123],"study_design_scores_gemma":[0.00004771047,0.0002675732,0.2611429,0.00002959507,0.00006066136,0.7336346,0.0005458471,0.0003691092,0.002631234,0.0003609698,0.0008627039,0.00004718512],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973314,0.0003255858,0.0003034608,0.00006528387,0.00001283699,0.00002304492,0.00009622463,0.00002698986,0.001815259],"genre_scores_gemma":[0.9994815,0.00008115944,0.0001108977,0.00004197726,0.00001820304,0.000006977434,0.00008507699,0.000009588475,0.0001645228],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00153143,"threshold_uncertainty_score":0.005123138,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01988324707199896,"score_gpt":0.3647883567283128,"score_spread":0.3449051096563138,"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."}}