{"id":"W1987710853","doi":"10.1210/jc.2011-1659","title":"Phenotypic Homogeneity and Genotypic Variability in a Large Series of Congenital Isolated ACTH-Deficiency Patients with <i>TPIT</i> Gene Mutations","year":2011,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":88,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal; Université de Montréal; Montreal Clinical Research Institute","funders":"Canadian Institutes of Health Research","keywords":"Missense mutation; Biology; Mutation; Compound heterozygosity; Genotype; Genetics; Phenotype; Exon; Gene; Heterozygote advantage; Molecular biology","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002597225,0.0004491116,0.0004027855,0.001057802,0.0003916249,0.0005261796,0.0003104959,0.0004131195,0.001462643],"category_scores_gemma":[0.002625855,0.0001735177,0.0002406899,0.0005024792,0.0004862542,0.0002558778,0.0004312749,0.0002811765,0.0003510617],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001481676,"about_ca_system_score_gemma":0.0001251429,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003341945,"about_ca_topic_score_gemma":0.0002749979,"domain_scores_codex":[0.9994735,0.00007907201,0.00007107701,0.0002245892,0.00009191524,0.00005981096],"domain_scores_gemma":[0.9989176,0.0004768666,0.0002445634,0.00009018272,0.00007515011,0.0001956199],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002784819,0.00003652031,0.9709428,0.000021731,0.00006127128,0.01207618,0.0003269313,0.0001668493,0.01067647,0.0000705761,0.0002242754,0.005117831],"study_design_scores_gemma":[0.00002640383,0.0002538066,0.8821851,0.00001258513,0.00006492522,0.1141359,0.0003332654,0.0005017293,0.00166793,0.0001211946,0.0006748853,0.00002237885],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992695,0.0001333934,0.000160502,0.00001557271,0.000004056779,0.000006200047,0.00009893017,0.000008101792,0.0003036009],"genre_scores_gemma":[0.9995987,0.00005304354,0.0001074534,0.00001351725,0.000008647723,0.000007706209,0.0001638015,0.000008118912,0.00003913192],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001462643,"threshold_uncertainty_score":0.004893005,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02716930167227037,"score_gpt":0.2952086830200725,"score_spread":0.2680393813478021,"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."}}