{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001863519,0.001745384,0.0007440214,0.001538962,0.001206876,0.0008556531,0.0005858871,0.001999987,0.001636145],"category_scores_gemma":[0.001389399,0.0005146803,0.0006080102,0.0008958483,0.00116043,0.0004269557,0.0009641516,0.0007323313,0.0002927618],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006259,"about_ca_system_score_gemma":0.0003731331,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001404655,"about_ca_topic_score_gemma":0.001185488,"domain_scores_codex":[0.9995875,0.00003166409,0.00004437123,0.0001656605,0.00007199537,0.00009894862],"domain_scores_gemma":[0.9995373,0.0001083913,0.00009463581,0.00002668137,0.000039087,0.0001939038],"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":[0.0006638953,0.0002671879,0.1071507,0.0001344819,0.00007041815,0.8357119,0.001760871,0.0003302766,0.03591131,0.0007447343,0.001069119,0.0161851],"study_design_scores_gemma":[0.0001245288,0.0003472518,0.07110033,0.00003640158,0.00007288309,0.9208246,0.0003520405,0.0003538631,0.003938678,0.0003647268,0.002427273,0.00005735266],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976565,0.0004388175,0.0004700296,0.0002125475,0.00003324488,0.00004247028,0.0001327903,0.00004604279,0.0009675105],"genre_scores_gemma":[0.9978827,0.0003169468,0.0008048872,0.0002143318,0.0000584713,0.00003021466,0.0001805257,0.00001507842,0.0004967807],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001999987,"threshold_uncertainty_score":0.005473435,"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."}}