{"id":"W2089844326","doi":"10.1210/jc.2013-1224","title":"Three Novel<i>IGSF1</i>Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism","year":2013,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Thyroid Disorders and Treatments","field":"Medicine","cited_by":43,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Natural Sciences and Engineering Research Council of Canada; Hokkaido University","keywords":"Congenital hypothyroidism; Pediatrics; Medicine; Genetics; Internal medicine; Biology; Thyroid","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003456662,0.0002698158,0.00104039,0.0001768543,0.00008871326,0.000019483,0.0003133333,0.0001418628,0.0001588997],"category_scores_gemma":[0.0007220795,0.0001448419,0.0003078445,0.0001953402,0.0004633778,0.0002600108,0.00006641024,0.0009872396,0.00008248734],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002879235,"about_ca_system_score_gemma":0.0002142944,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003338681,"about_ca_topic_score_gemma":0.0002147043,"domain_scores_codex":[0.9970384,0.0002126205,0.001469915,0.0002147218,0.0004399136,0.0006244153],"domain_scores_gemma":[0.9973001,0.0008112928,0.0007166298,0.0003781218,0.0004736898,0.0003200977],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003192605,0.004230778,0.9733116,0.00001045352,0.001652378,0.0002404757,0.0008777246,0.00006783046,0.000387597,0.0005294706,0.00115832,0.01434075],"study_design_scores_gemma":[0.02384653,0.0008718146,0.9714051,0.00002082576,0.0008262304,0.0003631456,0.0002372634,0.00003929598,0.00002225513,0.001137691,0.001097066,0.0001327936],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923999,0.001658817,0.0001261207,0.004084547,0.0006075256,0.0006799425,0.00001318991,0.00001770676,0.0004122986],"genre_scores_gemma":[0.9967243,0.0003909007,0.001221622,0.001079021,0.000380875,0.00001628945,0.000009641231,0.00003304017,0.0001442815],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02065393,"threshold_uncertainty_score":0.5906482,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03531097155023256,"score_gpt":0.3074770678138845,"score_spread":0.2721660962636519,"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."}}