{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001426171,0.0007151088,0.000220692,0.00048717,0.0002853726,0.0001283668,0.0001984126,0.0004023383,0.00151179],"category_scores_gemma":[0.0005913752,0.0001991408,0.0001249337,0.0002837445,0.0004487075,0.0001787349,0.0003838663,0.0002449081,0.0001891916],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000174194,"about_ca_system_score_gemma":0.00008459958,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003127177,"about_ca_topic_score_gemma":0.0004525237,"domain_scores_codex":[0.999873,0.00002007523,0.00001527863,0.00003530355,0.00004152288,0.00001484844],"domain_scores_gemma":[0.9998295,0.00005006592,0.00007449676,0.000009082784,0.000007355884,0.00002940875],"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":[0.001626014,0.0002189841,0.1684427,0.0005446542,0.0002532809,0.1698645,0.001292428,0.001061852,0.599328,0.001564037,0.002393064,0.05341057],"study_design_scores_gemma":[0.0001293313,0.0007133607,0.6238981,0.00007200477,0.0001258903,0.3234361,0.0002189528,0.001335935,0.04345873,0.0008450248,0.005725439,0.00004111909],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979798,0.0005075342,0.0006200844,0.00007384497,0.000008112909,0.00001359721,0.0001452771,0.00003879277,0.0006129952],"genre_scores_gemma":[0.9983278,0.0002413824,0.0006489516,0.000033502,0.00001723933,0.000006732753,0.0001218137,0.000007077768,0.0005955306],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00151179,"threshold_uncertainty_score":0.005057395,"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."}}