{"id":"W2285562668","doi":"10.1002/mgg3.190","title":"<scp>GATA</scp>5 mutation homozygosity linked to a double outlet right ventricle phenotype in a Lebanese patient","year":2015,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa","funders":"Faculty of Medicine, American University of Beirut; American University of Beirut","keywords":"Missense mutation; Phenotype; Heart development; Medicine; Genetics; GATA4; Bicuspid aortic valve; Allele; Mutation; Gene; Heart disease; Ventricle; Double outlet right ventricle; Zinc finger; Biology; Internal medicine; Transcription factor; Embryonic stem cell; Aortic valve","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0005090553,0.0002899025,0.0003296112,0.0002543846,0.00005261064,0.00002979926,0.0003641454,0.0001963548,0.00002466902],"category_scores_gemma":[0.0004058778,0.0002818045,0.00007656358,0.0004682082,0.0001133955,0.000004484194,0.0003916124,0.0002129445,0.0001893663],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001509959,"about_ca_system_score_gemma":0.0002763748,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002732008,"about_ca_topic_score_gemma":0.0002379389,"domain_scores_codex":[0.9975214,0.0001805768,0.0004618323,0.0006692837,0.0005479893,0.0006189313],"domain_scores_gemma":[0.9982508,0.00003300551,0.00008641434,0.0007550752,0.00029649,0.0005782179],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000193038,0.0001896256,0.001867546,0.00003942439,0.00006964539,0.0005485357,0.002023031,0.002455372,0.9830523,0.00003227219,0.003544621,0.00598465],"study_design_scores_gemma":[0.01639934,0.008076991,0.02346308,0.0001546394,0.000190332,0.0003569239,0.001396106,0.003247418,0.577811,0.00102784,0.3669927,0.0008836463],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9874538,0.00647517,0.002706631,0.0004086986,0.0002650351,0.001053894,0.0000155474,0.00001971463,0.001601515],"genre_scores_gemma":[0.9971568,0.00008849061,0.0008655222,0.0007238672,0.0002420211,0.00008463812,0.0002244288,0.00006165988,0.0005525465],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4052413,"threshold_uncertainty_score":0.9999634,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0201925847667733,"score_gpt":0.2891336434728378,"score_spread":0.2689410587060645,"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."}}