{"id":"W2942470711","doi":"10.1089/thy.2018.0461","title":"Wide Spectrum of <i>DUOX2</i> Deficiency: From Life-Threatening Compressive Goiter in Infancy to Lifelong Euthyroidism","year":2019,"lang":"en","type":"article","venue":"Thyroid","topic":"Thyroid Disorders and Treatments","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire de Sherbrooke; Centre hospitalier de l'Université Laval; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Compound heterozygosity; Medicine; Respiratory distress; Levothyroxine; Pediatrics; Goiter; Euthyroid; Heterozygote advantage; Internal medicine; Newborn screening; Exome sequencing; Endocrinology; Thyroid; Allele; Mutation; Surgery; Genetics; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001142494,0.0003134471,0.0007286448,0.0002621151,0.0000390965,0.00001826725,0.0002105564,0.0001241189,0.0002098362],"category_scores_gemma":[0.0001052201,0.0002717185,0.000147587,0.0004599765,0.00005465592,0.0001468801,0.0001451694,0.0002472856,0.000642789],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006424577,"about_ca_system_score_gemma":0.0001221041,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001459963,"about_ca_topic_score_gemma":0.0001682973,"domain_scores_codex":[0.9979634,0.00004981892,0.000552531,0.0005373944,0.0003786494,0.0005181609],"domain_scores_gemma":[0.9987006,0.0001545901,0.0001733088,0.0006263822,0.00005529619,0.0002898159],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008015561,0.0006127179,0.956509,0.00004398613,0.0001088608,0.0001092748,0.002966949,0.0001804108,0.0358808,0.0003283955,0.001583447,0.0008746053],"study_design_scores_gemma":[0.008381851,0.001012452,0.9683831,0.0003323056,0.0001270277,0.00001260846,0.0006253024,0.0001742572,0.01854447,0.00119479,0.0007991175,0.000412736],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9788025,0.007517587,0.0001073244,0.001290467,0.000201024,0.0008554168,0.00005501644,0.00006842433,0.01110224],"genre_scores_gemma":[0.996388,0.0001471178,0.001123269,0.001394814,0.00007569312,0.00003071384,0.0000760115,0.00005226941,0.0007121011],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01758551,"threshold_uncertainty_score":0.9999735,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008494403987309143,"score_gpt":0.2422257909876495,"score_spread":0.2337313870003404,"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."}}