{"id":"W2417525412","doi":"10.1186/s40478-016-0328-1","title":"Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study","year":2016,"lang":"en","type":"article","venue":"Acta Neuropathologica Communications","topic":"Pituitary Gland Disorders and Treatments","field":"Medicine","cited_by":140,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"Medical Research Council; Department of Science and Technology, Ministry of Science and Technology, India; University of Oxford; Parc Geneteg Cymru; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Fundación Alfonso Martín Escudero; National Heart, Lung, and Blood Institute; Pfizer; Johns Hopkins University; Rosetrees Trust; UK-India Education and Research Initiative; Baylor-Hopkins Center for Mendelian Genomics; National Human Genome Research Institute; NIHR Oxford Biomedical Research Centre; Wellcome Trust; Royal Society; Wellcome","keywords":"Gigantism; Gene duplication; Germline mutation; Biology; Acromegaly; Pathology; Germline; Pathological; Hyperplasia; Pathogenesis; Pituitary adenoma; Pituitary tumors; Mutation; Endocrinology; Internal medicine; Adenoma; Genetics; Medicine; Gene; 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":[0.0001424285,0.0003040325,0.0002049772,0.0006879921,0.0002656902,0.000232333,0.0002003809,0.0002929424,0.001652397],"category_scores_gemma":[0.0006206642,0.0002040225,0.0001551558,0.0005020191,0.0003311719,0.0001228208,0.0002574408,0.0001680075,0.0002876933],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001447155,"about_ca_system_score_gemma":0.00008984822,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006633369,"about_ca_topic_score_gemma":0.0005104839,"domain_scores_codex":[0.999843,0.00002822072,0.00001788978,0.00004266016,0.00003553813,0.0000327505],"domain_scores_gemma":[0.99978,0.00008121651,0.00005568275,0.00001718971,0.00001325939,0.000052687],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000786377,0.0002304456,0.7545344,0.00007803514,0.00009825096,0.1538371,0.0007094615,0.0001640499,0.07985069,0.0001695388,0.0002354312,0.009306225],"study_design_scores_gemma":[0.00004871187,0.0005764451,0.797518,0.000007797862,0.00004569777,0.1974737,0.0003144082,0.0004155343,0.002961905,0.00007178348,0.0005553461,0.00001065447],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9997132,0.00005371607,0.00004908164,0.000008173496,0.000001056577,0.00000297845,0.00002072723,0.000002012865,0.0001489361],"genre_scores_gemma":[0.9997576,0.00005141566,0.00004875715,0.00001224379,0.000006735173,0.00000205686,0.00004986063,0.000001100888,0.00007021063],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001652397,"threshold_uncertainty_score":0.005527794,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08124891525450223,"score_gpt":0.3592830797516792,"score_spread":0.2780341644971769,"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."}}