{"id":"W1958002532","doi":"10.1002/humu.22856","title":"Expanding the Molecular and Clinical Phenotype of SSR4-CDG","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Institutes of Health","keywords":"Biology; Carbohydrate deficient transferrin; Phenotype; Transferrin; Loss function; Exome sequencing; Genetics; Glycosylation; Mutation; Gene; Endocrinology","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":[0.0002000278,0.0009452349,0.0003003539,0.001102132,0.0002998295,0.0002956207,0.0003029148,0.0007280747,0.002791107],"category_scores_gemma":[0.0008901894,0.0001489819,0.0001936414,0.000370218,0.0007255649,0.0002527628,0.0004973519,0.0004378548,0.0004147627],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002241452,"about_ca_system_score_gemma":0.0002495895,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008455068,"about_ca_topic_score_gemma":0.0005402871,"domain_scores_codex":[0.9997876,0.0000316836,0.00002144466,0.00007254406,0.00004794142,0.00003884577],"domain_scores_gemma":[0.9997743,0.00006722986,0.00004468163,0.00001681675,0.00002806877,0.00006887985],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006772327,0.000192357,0.2412297,0.0001546007,0.00006626746,0.4829422,0.0007058367,0.0007290227,0.2333719,0.001412763,0.001320105,0.03719787],"study_design_scores_gemma":[0.00005335933,0.0003479389,0.2486468,0.00003152737,0.0000704229,0.7256648,0.00028276,0.001159953,0.0198746,0.000570878,0.003271622,0.00002547483],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958974,0.00038639,0.0006776526,0.0001783276,0.0000160712,0.00001886781,0.000138134,0.00004509912,0.002641942],"genre_scores_gemma":[0.9982051,0.0002330408,0.0007902183,0.00008404726,0.00002822739,0.000006105778,0.0001124118,0.00001215579,0.0005288683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002791107,"threshold_uncertainty_score":0.009337187,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05721757682732316,"score_gpt":0.3906510269943405,"score_spread":0.3334334501670173,"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."}}