{"id":"W2120056491","doi":"10.1530/eje-11-0168","title":"Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty","year":2011,"lang":"en","type":"article","venue":"European Journal of Endocrinology","topic":"Growth Hormone and Insulin-like Growth Factors","field":"Medicine","cited_by":60,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research","keywords":"Short stature; Internal medicine; Endocrinology; Ghrelin; Growth hormone secretagogue receptor; Allele; Secretagogue; Idiopathic short stature; Dwarfism; Mutation; Receptor; Medicine; Biology; Gene; Hormone; Genetics; Growth hormone","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002675285,0.0001111642,0.0002622926,0.0003039997,0.00003511503,0.000004283287,0.0001229403,0.00002140848,0.00002363006],"category_scores_gemma":[0.000303119,0.00006856525,0.0000372159,0.0002202613,0.0003772343,0.0001544541,0.00003270234,0.0004037584,0.00000191528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002499114,"about_ca_system_score_gemma":0.00009193473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003424084,"about_ca_topic_score_gemma":0.0000039769,"domain_scores_codex":[0.9987571,0.0002091031,0.0005489308,0.0001129282,0.0001738694,0.0001980523],"domain_scores_gemma":[0.9992181,0.0001063153,0.0003238489,0.00009667677,0.0001942911,0.000060769],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006826459,0.0005107261,0.9864931,0.0000206902,0.00007938862,0.0002802547,0.002586403,0.000003533334,0.00508693,0.003242313,0.000037312,0.0009766974],"study_design_scores_gemma":[0.004607251,0.001343163,0.9900641,0.00007308596,0.00003789695,0.0006495165,0.0005069483,0.000002573312,0.002486447,0.00003737122,0.0001208656,0.00007073566],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927933,0.00008537816,0.0005975793,0.0001952166,0.0000792518,0.0001380369,0.000008396241,0.000003320468,0.006099484],"genre_scores_gemma":[0.9959686,0.00003338018,0.003744459,0.0001874869,0.00004067627,0.000001155231,0.00001037499,0.00001024637,0.000003618804],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006095865,"threshold_uncertainty_score":0.279601,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02918307583959829,"score_gpt":0.2248869116897832,"score_spread":0.1957038358501849,"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."}}