{"id":"W4324117137","doi":"10.1016/j.gimo.2023.100386","title":"P358: Clinical and basic investigations into congenital disorders of glycosylation: SLC35C1-CDG the Fucose Golgi Transporter","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Fucose; Golgi apparatus; Glycosylation; Transporter; Medicine; Chemistry; Neuroscience; Psychology; Biochemistry; Glycoprotein; Cell; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004526225,0.0004992635,0.0003106342,0.0007375146,0.000425107,0.000425884,0.0003488436,0.0005523596,0.003111003],"category_scores_gemma":[0.0009107305,0.0001365676,0.0002930145,0.001062389,0.0003739403,0.0002145452,0.000382011,0.000379196,0.0006136119],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002935074,"about_ca_system_score_gemma":0.0003265067,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002106865,"about_ca_topic_score_gemma":0.002190497,"domain_scores_codex":[0.9995983,0.00007932548,0.00005470392,0.0001342515,0.00007035225,0.00006317157],"domain_scores_gemma":[0.9996198,0.00007483521,0.0001399862,0.00002866095,0.00005341207,0.00008317487],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006911955,0.0001382475,0.9775134,0.00008674115,0.00004810192,0.002443628,0.0002629252,0.00009384438,0.01048874,0.0001498964,0.001052112,0.007031313],"study_design_scores_gemma":[0.00004266819,0.0005969687,0.9853829,0.00003024598,0.00005182332,0.008287201,0.0002315766,0.0003296062,0.00227248,0.0001611531,0.002601529,0.00001192572],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940019,0.0004329387,0.0004490419,0.0001048092,0.00001201387,0.00006434647,0.003517491,0.00001945017,0.00139806],"genre_scores_gemma":[0.9947015,0.0001913435,0.001055438,0.0001323804,0.00002095313,0.00004454005,0.003132451,0.00001493214,0.0007063963],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003111003,"threshold_uncertainty_score":0.01040733,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05528822128323713,"score_gpt":0.3903702678895066,"score_spread":0.3350820466062694,"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."}}