{"id":"W2969821936","doi":"10.1089/thy.2019.0095","title":"Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the <i>THRB</i> Gene","year":2019,"lang":"en","type":"article","venue":"Thyroid","topic":"Growth Hormone and Insulin-like Growth Factors","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Proband; Mutation; Triiodothyronine; Thyroid; Gene; Endocrinology; Internal medicine; Mutant; Phenotype; Hormone; Biology; Allele; Genetics; Point mutation; Medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002274115,0.001685296,0.0005816959,0.0008768757,0.001169213,0.0004614347,0.0005090078,0.001288481,0.00195653],"category_scores_gemma":[0.0008808182,0.0003949009,0.0006581032,0.0003975415,0.001068825,0.0002299895,0.0004698517,0.001011932,0.000289996],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004092859,"about_ca_system_score_gemma":0.0002737413,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002819806,"about_ca_topic_score_gemma":0.002236713,"domain_scores_codex":[0.9997098,0.00004798434,0.00002778546,0.0001108694,0.00004797753,0.00005558383],"domain_scores_gemma":[0.9995408,0.0001470156,0.00008421143,0.00002625188,0.00002809299,0.0001735697],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004136053,0.0002294236,0.04082235,0.00008306756,0.00008821212,0.8317546,0.002379821,0.0001674443,0.118351,0.0002994619,0.0003994665,0.005011565],"study_design_scores_gemma":[0.00005105507,0.00059123,0.0737939,0.00002120403,0.0001115989,0.9089772,0.0004432149,0.0005252291,0.01414592,0.0001689083,0.001131709,0.00003875909],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972636,0.0001707693,0.00102308,0.0002435557,0.00002555178,0.00002173889,0.0000922829,0.00004322578,0.001116143],"genre_scores_gemma":[0.9987331,0.0000907205,0.0003524789,0.00007844342,0.00002276759,0.000007798145,0.00004963806,0.00001444442,0.0006506392],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002819806,"threshold_uncertainty_score":0.006545246,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01814324687984567,"score_gpt":0.2295536203221219,"score_spread":0.2114103734422762,"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."}}