{"id":"W4283734564","doi":"10.1097/01.hs9.0000849024.60193.ea","title":"P1542: COMORBIDITIES AND COMPLICATIONS ACROSS GENOTYPES IN ADULT PATIENTS WITH PYRUVATE KINASE DEFICIENCY: ANALYSIS FROM THE PEAK REGISTRY","year":2022,"lang":"en","type":"article","venue":"HemaSphere","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"","keywords":"Missense mutation; Medicine; Pyruvate kinase deficiency; Genotype; Internal medicine; Pediatrics; Compound heterozygosity; Frameshift mutation; Gastroenterology; Pyruvate kinase; Allele; Genetics; Mutation; Gene; Biology; Glycolysis","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":[0.00006077591,0.0001037997,0.0002139318,0.00002438319,0.0003502421,0.00001395987,0.00008896142,0.00003229206,0.000585941],"category_scores_gemma":[0.00003197885,0.00007100275,0.0000481621,0.0004858651,0.0001523945,0.00002921307,0.00009018627,0.0002219686,0.000009935184],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004453615,"about_ca_system_score_gemma":0.00004262868,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001217556,"about_ca_topic_score_gemma":0.00259412,"domain_scores_codex":[0.9991691,0.00007322781,0.0001601178,0.0002557323,0.0001774595,0.0001644245],"domain_scores_gemma":[0.9992881,0.0001096792,0.00008713954,0.0003812825,0.00008529056,0.00004847263],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002378697,0.000241887,0.9936234,0.0000221643,0.0001129026,0.00001349022,0.002298734,0.0003817127,0.000331877,0.000404181,0.001663693,0.0006681195],"study_design_scores_gemma":[0.001132704,0.0001621986,0.9886624,0.00001405021,0.0001542879,0.000003190918,0.005905672,0.0002666811,0.0000302348,0.0000910921,0.00348473,0.00009277259],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969134,0.000483751,0.00007049285,0.0009502358,0.0000499126,0.0002006402,0.0002654011,0.00003044282,0.001035742],"genre_scores_gemma":[0.997163,0.00003398252,0.0002048654,0.001543543,0.00002742459,0.00006960277,0.0005509226,0.00001091898,0.0003957328],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004960983,"threshold_uncertainty_score":0.6415642,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01339552114506611,"score_gpt":0.2466472623407824,"score_spread":0.2332517411957162,"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."}}