{"id":"W1971029505","doi":"10.1002/humu.21227","title":"Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism","year":2010,"lang":"en","type":"article","venue":"Human Mutation","topic":"Thyroid Disorders and Treatments","field":"Medicine","cited_by":70,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Fédération Wallonie-Bruxelles; Fonds De La Recherche Scientifique - FNRS","keywords":"Congenital hypothyroidism; Missense mutation; Biology; Compound heterozygosity; Thyroid peroxidase; Thyroid; Mutation; Endocrinology; Allele; Organification; Internal medicine; Phenotype; Genetics; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002135103,0.0001402617,0.000205775,0.00003419739,0.0004397464,0.00003525941,0.00003636944,0.0000684739,0.000002331273],"category_scores_gemma":[0.0001969116,0.00008492743,0.00007862462,0.00008999998,0.0001327714,0.00006741716,0.000008788165,0.0001368904,3.120119e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004101614,"about_ca_system_score_gemma":0.00004225228,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001932659,"about_ca_topic_score_gemma":0.001738283,"domain_scores_codex":[0.9991755,0.00003546145,0.0002432895,0.0001945184,0.0002013229,0.0001498406],"domain_scores_gemma":[0.9992157,0.0001634169,0.0002510075,0.0001388813,0.0001884929,0.00004255612],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0006450398,0.0007680681,0.004342261,0.00009431164,0.0004643071,0.00003619198,0.0145867,0.0005557304,0.9767724,0.0002242992,0.00006117087,0.001449569],"study_design_scores_gemma":[0.05412153,0.003166684,0.6013088,0.000364656,0.004022913,0.002157901,0.007161162,0.1020452,0.2243081,0.0005273506,0.00002436916,0.0007912725],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967129,0.00007509143,0.001600852,0.0001473693,0.00008239663,0.001292934,0.00003158292,0.00002608601,0.00003083577],"genre_scores_gemma":[0.9992605,4.504582e-7,0.0002661547,0.00007260346,0.00005304837,0.00006536821,0.0002269873,0.00002055237,0.00003428454],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7524642,"threshold_uncertainty_score":0.346324,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02636702131680175,"score_gpt":0.2660380863259529,"score_spread":0.2396710650091511,"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."}}