{"id":"W2315847851","doi":"10.1016/s1499-2671(08)24294-2","title":"Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: somatic and gonadal mosaicism in a mother with 2 affected sons","year":2008,"lang":"en","type":"article","venue":"Canadian Journal of Diabetes","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"","keywords":"GNAS complex locus; Pseudohypoparathyroidism; Medicine; Gs alpha subunit; Short stature; Endocrinology; Internal medicine; Brachydactyly; Mutation; Somatic cell; Adenylyl cyclase; Parathyroid hormone; Obesity; Receptor; Genetics; Gene; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0003502754,0.00145209,0.0008995463,0.002279189,0.001602331,0.0008941359,0.001384697,0.002506536,0.002826591],"category_scores_gemma":[0.002467691,0.0009423911,0.000980912,0.0009061499,0.001543408,0.0005826168,0.001018707,0.00157858,0.0004843923],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001395898,"about_ca_system_score_gemma":0.0008645658,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01480003,"about_ca_topic_score_gemma":0.01311528,"domain_scores_codex":[0.9994183,0.00005410607,0.00006625763,0.000160067,0.0001529843,0.0001483804],"domain_scores_gemma":[0.998817,0.0003990832,0.0001989275,0.0000521136,0.00006881515,0.0004641261],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006986706,0.00004562151,0.008152678,0.00001184508,0.00001146161,0.9873975,0.0003464512,0.00006478227,0.002605352,0.0001359199,0.0001136869,0.001044841],"study_design_scores_gemma":[0.0000229692,0.0001346805,0.02127977,0.000009113151,0.00002659409,0.9763433,0.0002410647,0.0002891797,0.001175842,0.0001009131,0.000355971,0.00002056355],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949164,0.0004302682,0.0005238479,0.0009204482,0.0001093263,0.00005385208,0.0002171841,0.00003665975,0.002791966],"genre_scores_gemma":[0.9967805,0.0002946566,0.0007162275,0.0001866192,0.0001141626,0.00001428284,0.00007172107,0.00002759504,0.00179411],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01480003,"threshold_uncertainty_score":0.02942777,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005658972180609143,"score_gpt":0.1826007825621337,"score_spread":0.1769418103815246,"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."}}