{"id":"W2342794187","doi":"10.14740/jem.v6i2.337","title":"Clinical and Genetic Study of Pseudohypoparathyroidism Type 1b in Hong Kong Chinese","year":2016,"lang":"en","type":"article","venue":"Journal of Endocrinology and Metabolism","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"GNAS complex locus; Pseudohypoparathyroidism; Medicine; Uniparental disomy; Imprinting (psychology); Multiplex ligation-dependent probe amplification; Genetics; Chinese population; Locus (genetics); Gene; Bioinformatics; Chromosome; Internal medicine; Parathyroid hormone; Karyotype; Biology; Genotype; Exon","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002159443,0.0004549641,0.0004216623,0.00116775,0.001279541,0.0003173384,0.0002730484,0.0003725706,0.001226176],"category_scores_gemma":[0.0007031146,0.0003551118,0.0002696282,0.001330418,0.0005964413,0.0002622656,0.0004555584,0.0002653575,0.0001237572],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009558516,"about_ca_system_score_gemma":0.0008007609,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.08910827,"about_ca_topic_score_gemma":0.04379664,"domain_scores_codex":[0.9997677,0.00002783542,0.00003665694,0.00007189486,0.00004229767,0.00005354361],"domain_scores_gemma":[0.9996287,0.00006549931,0.00006902954,0.00002174221,0.00004677895,0.0001682473],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001480331,0.00008816829,0.9202971,0.00004997458,0.00004301883,0.068746,0.002410995,0.0001121956,0.005304468,0.0001148729,0.000196974,0.002488333],"study_design_scores_gemma":[0.00001746302,0.0001634943,0.9594941,0.00001365202,0.00005385713,0.03746125,0.001484348,0.0003154562,0.0004437708,0.00006066787,0.0004723376,0.00001969489],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999365,0.0001240129,0.00005007383,0.00003882595,0.000003435918,0.00001306344,0.00004858768,0.000001588845,0.0003553272],"genre_scores_gemma":[0.9995228,0.0001120585,0.00004223927,0.00002759682,0.000004649571,0.000004292713,0.00004614244,0.000001333524,0.0002389031],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08910827,"threshold_uncertainty_score":0.1771792,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01679250639799893,"score_gpt":0.3065754203516621,"score_spread":0.2897829139536632,"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."}}