{"id":"W2064514167","doi":"10.1002/humu.21085","title":"RFT1 deficiency in three novel CDG patients","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University; Izaak Walton Killam Health Centre","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; U.S. Public Health Service","keywords":"Missense mutation; Glycosylation; Biology; Dolichol; Mutation; Internal medicine; Compound heterozygosity; Genetics; Endocrinology; Gene; Medicine; Biosynthesis","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":[0.0001013455,0.00006339008,0.00004972305,0.00007465361,0.00006248479,0.00001993728,0.00008005094,0.00006325357,0.00003740702],"category_scores_gemma":[0.00004993887,0.00006426751,0.00002412442,0.0001006987,0.00001801966,0.000005131115,0.00001547615,0.00005499965,0.00002551616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001757282,"about_ca_system_score_gemma":0.00002160268,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002036133,"about_ca_topic_score_gemma":0.0002318285,"domain_scores_codex":[0.9993813,0.00001525195,0.0001370252,0.0001767581,0.0001469068,0.0001427789],"domain_scores_gemma":[0.9997261,0.000002195324,0.0000351553,0.0001288326,0.00007613605,0.00003158784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00009736818,0.0008376995,0.04709192,0.00001880679,0.000005932759,0.00000551349,0.0002631508,0.0005379541,0.8998255,0.005613782,0.0005645505,0.04513784],"study_design_scores_gemma":[0.001409638,0.000501664,0.9685503,0.000008348878,0.000001796646,0.000001540489,0.00002020127,0.0003159764,0.02609526,0.001776158,0.001186505,0.0001326496],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921029,0.00004226666,0.002131203,0.00006463128,0.00002254273,0.0001967566,0.000002971778,0.000007385235,0.005429341],"genre_scores_gemma":[0.9990122,0.000002019602,0.0003064316,0.0001194065,0.00003549521,0.000009373034,0.0002227197,0.000005436501,0.0002869308],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9214584,"threshold_uncertainty_score":0.2620753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01969049816209868,"score_gpt":0.2991238563622931,"score_spread":0.2794333582001944,"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."}}