{"id":"W2064223801","doi":"10.1002/humu.21655","title":"Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by<i>SLC4A11</i>mutations","year":2011,"lang":"en","type":"article","venue":"Human Mutation","topic":"Biomedical Research and Pathophysiology","field":"Medicine","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research","keywords":"Missense mutation; Mutant; Biology; Mutant protein; Cell biology; HEK 293 cells; Mutation; Genetics; Molecular biology; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002320405,0.00007238095,0.0002073856,0.00007542143,0.00007728148,0.000004907571,0.00003593358,0.00006788449,0.00005396574],"category_scores_gemma":[0.0002072364,0.00004975985,0.00002472575,0.0001376122,0.0009421228,0.00006292755,0.00002268556,0.0001002457,0.000001374916],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008508178,"about_ca_system_score_gemma":0.00004625592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003280035,"about_ca_topic_score_gemma":0.00002308441,"domain_scores_codex":[0.9992305,0.0001208912,0.000233166,0.0001273244,0.0001796056,0.00010852],"domain_scores_gemma":[0.9994844,0.00007333142,0.000134883,0.0001031684,0.000130832,0.00007341416],"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":[0.0007212801,0.0001657079,0.00224745,0.0004915356,0.00007455845,0.000007080687,0.004187398,3.434025e-7,0.9778896,0.007915739,0.00005810046,0.006241238],"study_design_scores_gemma":[0.00809705,0.001986571,0.7867594,0.0001743793,0.0001692575,0.00003304862,0.0008280324,0.0009003695,0.1796035,0.02124042,0.00005080095,0.0001572187],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980024,0.0001495222,0.0007520766,0.0001769209,0.0000125144,0.0005402414,0.00002518588,0.00001225059,0.0003288511],"genre_scores_gemma":[0.9992492,0.00004589019,0.0003689394,0.00004031618,0.00002201427,0.0000393122,0.0001271409,0.0000075325,0.00009963688],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7982861,"threshold_uncertainty_score":0.347129,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03243489499534184,"score_gpt":0.2870585014425196,"score_spread":0.2546236064471777,"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."}}