{"id":"W4232227875","doi":"10.14740/jem337w","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":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"GNAS complex locus; Pseudohypoparathyroidism; Medicine; Imprinting (psychology); Uniparental disomy; Multiplex ligation-dependent probe amplification; Genetics; Chinese population; Locus (genetics); Gene; Bioinformatics; Chromosome; Parathyroid hormone; Internal medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002263506,0.0001146406,0.0003760651,0.00009899993,0.00002336894,0.000004992808,0.0001158823,0.00008669865,0.000003970306],"category_scores_gemma":[0.0002637838,0.00007143791,0.00005477439,0.00006294901,0.0001369615,0.00000615673,0.0001347614,0.0001193793,5.966463e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001396644,"about_ca_system_score_gemma":0.00003582349,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000768867,"about_ca_topic_score_gemma":0.0000168116,"domain_scores_codex":[0.9988281,0.0001567611,0.0005727148,0.0001827247,0.00007234611,0.0001873922],"domain_scores_gemma":[0.9993855,0.00004315931,0.0002510681,0.0001528031,0.00009298965,0.00007452488],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005701817,0.0002066213,0.8314294,0.000004296376,0.00008939567,0.00004098124,0.00008768751,0.000002433871,0.1510433,0.00002841369,0.00004067506,0.01696982],"study_design_scores_gemma":[0.003610638,0.0008307837,0.9906474,0.00001116395,0.00004739674,0.0009917886,0.0001656837,0.000001213423,0.002354108,0.0001763942,0.001080088,0.00008339137],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9873995,0.01193276,0.0000494922,0.00009967693,0.000388548,0.00008394798,9.17313e-7,0.000001078592,0.00004406179],"genre_scores_gemma":[0.9924235,0.006566751,0.0006898479,0.00003340094,0.0002032114,0.00000113495,1.675363e-7,0.000008653727,0.00007338265],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.159218,"threshold_uncertainty_score":0.2913153,"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."}}