{"id":"W2082253768","doi":"10.1002/humu.22019","title":"Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip","year":2011,"lang":"en","type":"article","venue":"Human Mutation","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Deutsche Forschungsgemeinschaft","keywords":"Biology; Glycosylation; Identification (biology); Lead (geology); Computational biology; Bioinformatics; Genetics; Ecology","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":[0.000194693,0.001421189,0.0004795376,0.0009254281,0.0006903757,0.0006229693,0.0005741907,0.001550549,0.001822683],"category_scores_gemma":[0.002085872,0.0004588368,0.0005049456,0.0005307627,0.00119628,0.0005896692,0.0009584296,0.001138543,0.0004040974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007522699,"about_ca_system_score_gemma":0.0003240593,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001263906,"about_ca_topic_score_gemma":0.0007993474,"domain_scores_codex":[0.9996467,0.00002499047,0.00004211614,0.0001285942,0.00006066563,0.00009703368],"domain_scores_gemma":[0.9992225,0.000227367,0.000115831,0.00009153495,0.00007329524,0.0002695874],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004708722,0.0003006144,0.2949326,0.000122329,0.00003843878,0.6176017,0.002024809,0.0006973502,0.03395106,0.001803416,0.001587191,0.04646961],"study_design_scores_gemma":[0.00006602142,0.000439262,0.09445869,0.00003151651,0.00007571465,0.8789129,0.0004253763,0.001472657,0.01930906,0.0007148206,0.004043178,0.00005073961],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9909107,0.0005300051,0.005013431,0.0004960387,0.00007993063,0.00006871946,0.0001580498,0.0001763296,0.002566793],"genre_scores_gemma":[0.9945658,0.00028758,0.00393013,0.0002515878,0.00006977159,0.00003699199,0.0001602551,0.00002573975,0.0006721765],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001822683,"threshold_uncertainty_score":0.006097496,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02006405553954717,"score_gpt":0.2638390421383373,"score_spread":0.2437749865987901,"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."}}