{"id":"W2912327695","doi":"10.1002/jimd.12055","title":"Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients","year":2019,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Children's Hospital","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Horizon 2020 Framework Programme; Eesti Teadusagentuur; National Institutes of Health; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; H2020 European Institute of Innovation and Technology; ZonMw; European Commission","keywords":"Corpus callosum; Hypotonia; Epilepsy; Abnormality; Medicine; Hypsarrhythmia; Hyperintensity; Pathology; Encephalopathy; White matter; Pediatrics; Internal medicine; Magnetic resonance imaging; Radiology","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":[0.0002076889,0.0009239633,0.0004556307,0.001217248,0.0007128782,0.0003582585,0.000215484,0.0006605526,0.001183631],"category_scores_gemma":[0.001098005,0.0002097135,0.0002435728,0.0007928318,0.0005294893,0.0002669638,0.0004562413,0.0002056379,0.0002292637],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002661072,"about_ca_system_score_gemma":0.0002175554,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001616504,"about_ca_topic_score_gemma":0.001382396,"domain_scores_codex":[0.9997376,0.00004007289,0.00004703453,0.00008431537,0.00003764076,0.0000533028],"domain_scores_gemma":[0.9996837,0.00007241534,0.0000627644,0.00001938004,0.00003462823,0.0001270225],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004496473,0.00009483367,0.9127445,0.00004729153,0.00006298558,0.06597392,0.001140513,0.0002404062,0.01191524,0.0001104235,0.0003758753,0.006844352],"study_design_scores_gemma":[0.00004352285,0.0003462802,0.8498249,0.00002869925,0.00006717975,0.1466484,0.0006847138,0.0002710954,0.0009719294,0.000177677,0.0009057564,0.00002980021],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991448,0.000133473,0.00005722904,0.00002582095,0.000002864026,0.000009695578,0.0000782264,0.00000585594,0.0005420071],"genre_scores_gemma":[0.9995108,0.00009289917,0.00008889653,0.00003536849,0.00001172659,0.00001034368,0.0001599884,0.000002806634,0.00008725072],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001616504,"threshold_uncertainty_score":0.003959656,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00927065505350211,"score_gpt":0.2616581801641769,"score_spread":0.2523875251106747,"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."}}