{"id":"W3082794855","doi":"10.1002/jmd2.12160","title":"Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature","year":2020,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Institutes of Health; Rare Diseases Clinical Research Network","keywords":"Anomaly (physics); Ring (chemistry); Medicine; Chemistry; Physics; Condensed matter physics","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":[0.0002429287,0.00009272423,0.0001392363,0.00002008724,0.00003963376,0.00001463918,0.00004595741,0.00005373841,0.00001007396],"category_scores_gemma":[0.0003165896,0.00005802536,0.00006085126,0.0002970422,0.00004920223,0.000004245904,0.0001106196,0.0001073277,2.322878e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007402898,"about_ca_system_score_gemma":0.0001168795,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005934785,"about_ca_topic_score_gemma":0.00003709769,"domain_scores_codex":[0.9989901,0.00004829155,0.0003212527,0.000313751,0.0002056218,0.0001210233],"domain_scores_gemma":[0.9992198,0.000003129542,0.0001837658,0.0003996378,0.0001220374,0.00007159746],"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":[0.0002041137,0.0002467275,0.07150655,0.007300016,0.0001091669,0.8409331,0.001634478,0.0001989697,0.06398304,0.00003549855,0.002208723,0.01163962],"study_design_scores_gemma":[0.001302995,0.001289416,0.01620241,0.006126167,0.00009745897,0.6441212,0.000325298,0.0002208344,0.2067882,0.00003463871,0.1227698,0.0007215285],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9650947,0.03329515,0.00002345565,0.0004321704,0.00001840834,0.0004587283,0.00000396442,0.000003706803,0.0006696898],"genre_scores_gemma":[0.9983718,0.0009208343,0.0001902422,0.0003958213,0.00001695017,0.00002356857,0.00002292541,0.000008849809,0.00004898365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1968119,"threshold_uncertainty_score":0.2366206,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006426149303704567,"score_gpt":0.2344349470337479,"score_spread":0.2280087977300433,"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."}}