{"id":"W4381434474","doi":"10.1210/clinem/dgad373","title":"Prevalence of Deleterious Variants in <i>MC3R</i> in Patients With Constitutional Delay of Growth and Puberty","year":2023,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Hypothalamic control of reproductive hormones","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; Wellcome; Barts Charity; Medical Research Council; National Institute for Health and Care Research; NIHR Cambridge Biomedical Research Centre; Wellcome Trust","keywords":"Menarche; Cohort; Delayed puberty; Population; Medicine; Internal medicine; Endocrinology; Oncology; Pediatrics; Biology; Hormone","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":[0.0002544847,0.0003179183,0.0003165612,0.0008344587,0.0004101087,0.0003955337,0.0003348527,0.0006105527,0.002518327],"category_scores_gemma":[0.001677073,0.0001877922,0.0002084722,0.0007490477,0.0005581274,0.0002408341,0.0002900519,0.0004197908,0.0002227205],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001574956,"about_ca_system_score_gemma":0.0001463905,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001871615,"about_ca_topic_score_gemma":0.001391948,"domain_scores_codex":[0.9996681,0.00006281493,0.00004251774,0.0001177939,0.00006062951,0.00004804131],"domain_scores_gemma":[0.9990143,0.0002827557,0.0004893643,0.00004654228,0.00005367866,0.0001133745],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001816749,0.00001267298,0.9953653,0.00001131218,0.00002500941,0.0009609953,0.00007224032,0.00003567112,0.002078502,0.0000297997,0.00008145406,0.001145463],"study_design_scores_gemma":[0.00001713768,0.000139546,0.9900476,0.00001007312,0.00004027115,0.008727369,0.0001802935,0.0002082527,0.0003856173,0.00005047927,0.0001870995,0.000006238623],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995251,0.0001625645,0.00003844852,0.00002013034,0.000003495448,0.000002294851,0.00007441565,0.000003023253,0.0001706201],"genre_scores_gemma":[0.9997874,0.00004448693,0.00004094121,0.00001297702,0.000006874087,0.000001691664,0.00007121143,0.000001374511,0.00003298829],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002518327,"threshold_uncertainty_score":0.00842464,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02426812541224529,"score_gpt":0.3111375115277482,"score_spread":0.2868693861155029,"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."}}