{"id":"W2074725162","doi":"10.1016/j.exphem.2010.12.009","title":"A novel ENU-generated truncation mutation lacking the spectrin-binding and C-terminal regulatory domains of Ank1 models severe hemolytic hereditary spherocytosis","year":2010,"lang":"en","type":"article","venue":"Experimental Hematology","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":false,"ca_institutions":"Ontario Institute for Cancer Research; Mount Sinai Hospital; Lunenfeld-Tanenbaum Research Institute; University of British Columbia; Hospital for Sick Children; Toronto Centre for Phenogenomics; University of Toronto","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research","keywords":"Hereditary spherocytosis; Ankyrin; Biology; Band 3; Molecular biology; Spherocytosis; Genetics; Mutant; Red blood cell; Mutation; Gene; Immunology; Membrane protein","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":[0.0001154946,0.0001643546,0.0003313023,0.0000820326,0.0001381775,0.000007238269,0.00006566826,0.00017607,0.0001665438],"category_scores_gemma":[0.00002213784,0.0001310132,0.00006364512,0.0001349581,0.0002437673,0.0001093524,0.00004614558,0.0002409228,0.000009540511],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005002268,"about_ca_system_score_gemma":0.0000693678,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004097239,"about_ca_topic_score_gemma":0.00002578794,"domain_scores_codex":[0.9990093,0.00004985476,0.0003112944,0.0002884121,0.0001434363,0.0001977241],"domain_scores_gemma":[0.9993662,0.00009220827,0.0001608038,0.0002492366,0.00005644216,0.00007515177],"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":[0.0003742347,0.0002102049,0.0006138593,0.0000637888,0.00004845691,0.0000405534,0.001411586,0.00002258431,0.9843004,0.01244892,0.0001859178,0.0002795187],"study_design_scores_gemma":[0.002680286,0.0004371541,0.00388817,0.00006044898,0.00006406382,0.01276806,0.002655487,0.006872559,0.9700027,0.0003316365,0.00005893064,0.0001805708],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970741,0.0007023528,0.0004346478,0.0001795338,0.0005976489,0.000309582,0.000006904216,0.00004354288,0.0006516322],"genre_scores_gemma":[0.9968765,0.000007999637,0.002451398,0.0002530401,0.0001767119,0.00003214432,0.00005743572,0.00002148184,0.0001232458],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01429774,"threshold_uncertainty_score":0.5342564,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0217285710931869,"score_gpt":0.2768403781620075,"score_spread":0.2551118070688206,"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."}}