{"id":"W2098195823","doi":"10.1172/jci19159","title":"Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS","year":2003,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":259,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; St. Michael's Hospital; McGill University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; U.S. Public Health Service; National Institutes of Health","keywords":"GNAS complex locus; Pseudohypoparathyroidism; Exon; Genetics; Genomic imprinting; Biology; Locus (genetics); X chromosome; Imprinting (psychology); X-inactivation; Differentially methylated regions; DNA methylation; Molecular biology; Gene; Parathyroid hormone; Internal medicine; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00006824711,0.0007240163,0.0002847133,0.0007582621,0.0003796937,0.0001834962,0.0003034877,0.0004381389,0.001781018],"category_scores_gemma":[0.0004424862,0.0002660197,0.0002191034,0.000542154,0.0004313078,0.0001135077,0.0003694003,0.0002419217,0.0002587612],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002016299,"about_ca_system_score_gemma":0.0001269602,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001068343,"about_ca_topic_score_gemma":0.001618212,"domain_scores_codex":[0.9998488,0.00001881726,0.00001799622,0.00004933954,0.0000362438,0.00002876605],"domain_scores_gemma":[0.9997192,0.00005631813,0.0001210468,0.00002011452,0.0000139095,0.00006931339],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001598996,0.0002041683,0.4231416,0.0002508847,0.0003486531,0.1291787,0.0007830288,0.0002031918,0.4186753,0.0004879853,0.0005873041,0.02454017],"study_design_scores_gemma":[0.00008513054,0.0005599578,0.725877,0.00001554237,0.000148104,0.2585297,0.0001772218,0.0003031348,0.0118857,0.0001847871,0.002215274,0.00001832499],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988651,0.000199123,0.0003703474,0.00001788052,0.000004268203,0.000009838944,0.00008068899,0.00002291643,0.0004297112],"genre_scores_gemma":[0.9987876,0.0001338323,0.000460192,0.00002199664,0.0000116189,0.00000895486,0.000170984,0.000006389371,0.0003984017],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001781018,"threshold_uncertainty_score":0.00595808,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03850555383248604,"score_gpt":0.3210772784450016,"score_spread":0.2825717246125156,"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."}}