{"id":"W2041043596","doi":"10.1097/00125817-200111000-00003","title":"Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia","year":2001,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":59,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; University of California, San Diego; National Institutes of Health; March of Dimes Foundation","keywords":"Mutation; Thermolabile; Glycosylation; Saccharomyces cerevisiae; Biology; Molecular biology; Genetics; N-linked glycosylation; Gene; Glycan; Biochemistry; Enzyme; Glycoprotein","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001582377,0.00009290715,0.0001452579,0.000176967,0.00001707174,0.000001657309,0.0000852425,0.00007789653,0.00009450973],"category_scores_gemma":[0.0001673837,0.0000805385,0.00001918512,0.0003992135,0.0002038029,0.000003348098,0.00002309672,0.00008257038,0.0000012637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001619586,"about_ca_system_score_gemma":0.00007111758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001504865,"about_ca_topic_score_gemma":0.001888265,"domain_scores_codex":[0.9990011,0.00006468657,0.0002934388,0.0001927995,0.0003021221,0.0001458479],"domain_scores_gemma":[0.9994561,0.00002765175,0.0000961955,0.0001749273,0.0002041247,0.00004100451],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006256526,0.0003316403,0.8305587,0.00003681898,0.00003518361,0.000001803364,0.0001687225,0.00509473,0.1554782,0.00004297878,0.0001114722,0.007514048],"study_design_scores_gemma":[0.003426437,0.0008474881,0.9797412,0.00003351053,0.000009407397,8.561169e-7,0.00009287481,0.0005563324,0.01449108,0.0001100824,0.0006016757,0.00008906466],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959353,0.0003264752,0.002501879,0.0001188331,0.00004898866,0.0004241665,0.00001410307,0.000002383041,0.0006279171],"genre_scores_gemma":[0.9988025,0.0001720041,0.0004728542,0.00001984817,0.00003416129,0.00002802701,0.0003660258,0.00001074074,0.00009381879],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1491825,"threshold_uncertainty_score":0.3284265,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01101115766814189,"score_gpt":0.2740674873536831,"score_spread":0.2630563296855412,"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."}}