{"id":"W1897866435","doi":"10.1111/cge.12072","title":"Cardiac characterization of 16 patients with large <i><scp>NF1</scp></i> gene deletions","year":2012,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Neurofibromatosis and Schwannoma Cases","field":"Medicine","cited_by":49,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"","keywords":"Medicine; Hypertrophic cardiomyopathy; Internal medicine; Cardiology; Neurofibromatosis; Intracardiac injection; Cardiomyopathy; Diastole; Population; Left ventricular hypertrophy; Heart failure; Pathology; Blood pressure","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":[0.0002524323,0.0001338812,0.0004048005,0.00004233221,0.00005188157,0.000008640178,0.0000672781,0.0001278133,0.00002413704],"category_scores_gemma":[0.0002594861,0.0001045631,0.0001587005,0.0001639951,0.00009157544,0.00005165025,0.00005812895,0.0001487428,0.00004115108],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001188687,"about_ca_system_score_gemma":0.00005289963,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":6.818565e-7,"about_ca_topic_score_gemma":2.523574e-7,"domain_scores_codex":[0.9985502,0.0001029382,0.0005756732,0.0001960273,0.0002768864,0.0002982421],"domain_scores_gemma":[0.9986737,0.0002056937,0.0002177919,0.0003848817,0.0002301604,0.0002877476],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002633406,0.0009602659,0.9856594,0.0000345361,0.00005789841,0.000001641852,0.00003767424,2.662948e-7,0.01109254,0.00004812254,0.001007109,0.001074258],"study_design_scores_gemma":[0.001118017,0.0007063386,0.9337387,0.0000352364,0.0001999797,0.000004030615,0.00001401461,0.000009749549,0.01644316,0.000003047635,0.04767612,0.00005156715],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976356,0.0002681388,0.0004943644,0.00004274916,0.0004898674,0.0003361064,0.0002101014,0.00002866283,0.0004944158],"genre_scores_gemma":[0.9969538,0.0003158537,0.001116902,0.0004717022,0.0004479618,0.00001069723,0.0004259199,0.00003429914,0.0002228672],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05192062,"threshold_uncertainty_score":0.426396,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02866815195664812,"score_gpt":0.2963905182736245,"score_spread":0.2677223663169764,"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."}}