{"id":"W3006298960","doi":"10.1002/ajh.25753","title":"Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency","year":2020,"lang":"en","type":"article","venue":"American Journal of Hematology","topic":"Erythrocyte Function and Pathophysiology","field":"Medicine","cited_by":65,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; University of Toronto; McMaster University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Center for Advancing Translational Sciences; Agios Pharmaceuticals","keywords":"Missense mutation; Pyruvate kinase deficiency; Compound heterozygosity; Genotype; Genetics; Hemolytic anemia; Medicine; Internal medicine; Biology; Allele; Mutation; Gene; Pyruvate kinase","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":[0.0000968244,0.00008881716,0.0004490113,0.0001046795,0.00001953119,0.000002698356,0.00004500141,0.00004550083,0.0000361303],"category_scores_gemma":[0.0001595133,0.00007475943,0.00005762174,0.0002403949,0.0001870178,0.00003597256,0.00002130369,0.0002370347,0.00001614176],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001809561,"about_ca_system_score_gemma":0.0000747695,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001260083,"about_ca_topic_score_gemma":0.000003573124,"domain_scores_codex":[0.9991866,0.0001055325,0.0003407596,0.0001340285,0.00008951144,0.0001435103],"domain_scores_gemma":[0.9993653,0.00005633558,0.0002674796,0.00007756033,0.00008393337,0.0001493789],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005025546,0.0004254151,0.5549098,0.0002201002,0.0001586166,0.003797001,0.002564644,0.0007069212,0.3874331,0.005637541,0.0005559975,0.03856531],"study_design_scores_gemma":[0.01816779,0.04271356,0.8250953,0.0004130282,0.0008152465,0.02093374,0.005048087,0.01052973,0.06354749,0.003106505,0.008314827,0.001314698],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911172,0.001105697,0.004365511,0.003072292,0.0001020273,0.00006391401,6.565534e-7,0.000008400961,0.000164311],"genre_scores_gemma":[0.9941137,0.0001089093,0.001837348,0.003889675,0.00003634315,8.072736e-7,0.000001879767,0.000009412964,0.000001955828],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3238856,"threshold_uncertainty_score":0.3048601,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01417289972769776,"score_gpt":0.2619822443655167,"score_spread":0.247809344637819,"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."}}