{"id":"W2055413182","doi":"10.1081/erc-200044166","title":"A Neonatal Form of Isolated ACTH Deficiency Frequently Associated with Tpit Gene Mutations","year":2004,"lang":"en","type":"article","venue":"Endocrine Research","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Clinical Research Institute","funders":"","keywords":"Gene; Mutation; Medicine; Genetics; Biology; Internal 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000165663,0.0001002991,0.0001082332,0.0001096618,0.0001356846,0.00002057175,0.0002138438,0.00004497167,0.00002959488],"category_scores_gemma":[0.0002107498,0.00008331559,0.00006140926,0.0003031106,0.0001563125,0.000005032581,0.0001142236,0.0001300322,0.000009265965],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004532816,"about_ca_system_score_gemma":0.0004004033,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002413468,"about_ca_topic_score_gemma":0.0002558978,"domain_scores_codex":[0.9988421,0.00004651707,0.0001603129,0.0002524866,0.0002970053,0.0004016377],"domain_scores_gemma":[0.9991772,0.00002304025,0.00004939263,0.0002586066,0.0003826157,0.0001091638],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004651108,0.00098552,0.004618016,0.00007195909,0.0002800247,0.0004988821,0.000491691,0.001162989,0.9856624,0.001887182,0.0004375059,0.003438744],"study_design_scores_gemma":[0.005233776,0.003672516,0.0247029,0.00008336196,0.00005752652,0.0003364405,0.000672762,0.00021155,0.9581773,0.003114176,0.003205827,0.0005318072],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969776,0.001145288,0.0006571486,0.0001320661,0.00001895887,0.0002258227,0.0001256322,0.000009587479,0.0007078432],"genre_scores_gemma":[0.9985014,0.0001916592,0.0003831811,0.00001622177,0.00003808135,0.0000277567,0.0005087712,0.00002053351,0.0003123764],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02748502,"threshold_uncertainty_score":0.3397511,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02242139349409504,"score_gpt":0.3177838185447286,"score_spread":0.2953624250506336,"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."}}