{"id":"W2009408130","doi":"10.1210/jc.2014-3098","title":"Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms","year":2015,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire de Sherbrooke","funders":"Instituto de Salud Carlos III; Agence Nationale de la Recherche; Marmara Üniversitesi; Ministero della Salute; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Institut National de la Santé et de la Recherche Médicale; Università degli Studi di Torino; Università degli Studi di Milano; Université Paris-Sud; Aix-Marseille Université","keywords":"GNAS complex locus; Pseudohypoparathyroidism; Genetics; Locus (genetics); Biology; Haploinsufficiency; Multiplex ligation-dependent probe amplification; Phenotype; Gene; Exon; Medicine; Internal medicine; Parathyroid 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":[0.0001218183,0.0003068437,0.0002446308,0.000812528,0.0001449751,0.0001746451,0.0002783548,0.0003949262,0.001034504],"category_scores_gemma":[0.0007037119,0.0001183327,0.0001881295,0.0003790523,0.0004644512,0.000152868,0.0003290962,0.0003165365,0.0001826182],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001818629,"about_ca_system_score_gemma":0.000116513,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004362073,"about_ca_topic_score_gemma":0.0004377905,"domain_scores_codex":[0.9998615,0.00001461517,0.00001543284,0.00004524263,0.00004128654,0.00002198529],"domain_scores_gemma":[0.9996808,0.0001376404,0.00008357153,0.0000271763,0.00002584998,0.00004502614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008473889,0.0001169164,0.3244052,0.0002626313,0.0001108144,0.04292874,0.0008488043,0.0014169,0.5994136,0.0004049262,0.0002016184,0.02904253],"study_design_scores_gemma":[0.00009826155,0.0005592906,0.6976525,0.00002674751,0.0001869226,0.1891504,0.0002781426,0.003082135,0.1057837,0.0004266675,0.002728225,0.00002706791],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982515,0.0003165754,0.001117768,0.00002414105,0.000002684551,0.00001121591,0.00009870881,0.00002092704,0.0001564607],"genre_scores_gemma":[0.9986073,0.000118217,0.0009918498,0.00001448015,0.00000519147,0.0000127261,0.0001643648,0.000003812572,0.00008195655],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001034504,"threshold_uncertainty_score":0.003460765,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07914498551181033,"score_gpt":0.3485783808465424,"score_spread":0.269433395334732,"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."}}