{"id":"W2079597091","doi":"10.1182/blood-2012-04-422253","title":"Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis","year":2012,"lang":"en","type":"article","venue":"Blood","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":453,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba; CancerCare Manitoba","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; American Society of Hematology","keywords":"PIEZO1; Mechanotransduction; Genetics; Mutation; Biology; Medicine; Gene","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":[0.000170505,0.00008817382,0.0001403785,0.00006089303,0.00007055005,0.00000436797,0.00003717732,0.00008566766,0.00009836157],"category_scores_gemma":[0.00007131429,0.00005539662,0.00003793869,0.0002787139,0.0000340467,0.00008297584,0.000004255292,0.0001942916,0.00003074768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002145243,"about_ca_system_score_gemma":0.00002841683,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002411085,"about_ca_topic_score_gemma":0.00008894921,"domain_scores_codex":[0.9993209,0.0001075719,0.0001181282,0.0001109479,0.0001498942,0.0001925709],"domain_scores_gemma":[0.9996671,0.00004640564,0.00005755432,0.0001339956,0.00004734038,0.00004757163],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002115051,0.03027936,0.4630899,0.0005811324,0.001689581,0.0005952844,0.02902156,0.00007934883,0.4597368,0.004019808,0.004679612,0.004112532],"study_design_scores_gemma":[0.009719723,0.001547544,0.9362604,0.0004165525,0.0007713136,0.0005557553,0.006492972,0.00003950907,0.04216044,0.0003175168,0.001387375,0.0003308776],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997167,0.0001402309,0.0001690552,0.001105655,0.0001098085,0.000451061,0.000007919886,0.00005577552,0.0007935124],"genre_scores_gemma":[0.9985539,0.000005443351,0.0001959274,0.000538027,0.0002913201,0.0001389962,0.00008204518,0.00001225454,0.0001820832],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4731705,"threshold_uncertainty_score":0.2259009,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02242564394016159,"score_gpt":0.2381817491143769,"score_spread":0.2157561051742153,"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."}}