{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004282717,0.00004435618,0.00005757734,0.00002150498,0.00004604096,0.00001435723,0.00006310648,0.00005354539,0.000009999698],"category_scores_gemma":[0.0001761633,0.00003373462,0.00002768356,0.00004300904,0.00008781941,0.000002696632,0.00004209913,0.00005235833,0.000005395142],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004439863,"about_ca_system_score_gemma":0.00003488086,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002133493,"about_ca_topic_score_gemma":0.00001977499,"domain_scores_codex":[0.9994432,0.00009279783,0.0001503175,0.0001173842,0.0001223017,0.00007395387],"domain_scores_gemma":[0.9996432,0.000009841325,0.00005470054,0.0001370873,0.0001078852,0.00004730149],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001776787,0.0001055218,0.01368256,0.00003032411,0.00006630745,0.000008072571,0.0005759089,0.0001706234,0.952883,0.007410807,0.001426904,0.0234623],"study_design_scores_gemma":[0.005060006,0.002438836,0.09708753,0.00004052732,0.00007085287,0.00003079265,0.001811231,0.001148898,0.8659698,0.009305011,0.0165927,0.0004437585],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994743,0.0002943376,0.002562716,0.0001055333,0.00003477471,0.0001279067,0.000001297632,0.000003831044,0.002126546],"genre_scores_gemma":[0.9993443,0.00001124815,0.0002278291,0.00006367292,0.00006644236,0.000005735965,0.00004123927,0.000006405985,0.0002330891],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08691315,"threshold_uncertainty_score":0.1375658,"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."}}