{"id":"W2117513049","doi":"10.1038/ng1048","title":"HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome","year":2002,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":749,"is_retracted":false,"has_abstract":false,"ca_institutions":"Mount Sinai Hospital","funders":"","keywords":"Biology; Exon; Germline; Locus (genetics); Germline mutation; Genetics; Gene; Tumor suppressor gene; Mutation; Molecular biology; Cancer research; Carcinogenesis","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":[0.0001919903,0.0007816871,0.0004413711,0.001016361,0.0005074418,0.000488799,0.0004016466,0.001751131,0.001869645],"category_scores_gemma":[0.0008292261,0.0002735005,0.0004464743,0.0006408219,0.0006009037,0.0002984551,0.0003707694,0.0005979061,0.0004415681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003867856,"about_ca_system_score_gemma":0.0002386857,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001102107,"about_ca_topic_score_gemma":0.000666566,"domain_scores_codex":[0.9997359,0.00002750587,0.00002997271,0.00007193152,0.0001018828,0.00003287573],"domain_scores_gemma":[0.9995893,0.0001770303,0.0001035583,0.00001716697,0.00002589128,0.00008708665],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001286775,0.00009549482,0.02547479,0.000189238,0.0001473149,0.5620559,0.0005269343,0.0006222539,0.3953932,0.001016346,0.001425193,0.01176661],"study_design_scores_gemma":[0.0002859548,0.0003063462,0.08994561,0.00003465662,0.0003663568,0.8040743,0.0002327107,0.002749933,0.09333014,0.001101477,0.007518757,0.0000537205],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914942,0.001655176,0.002052267,0.0006506793,0.0001365434,0.00003938722,0.0005261269,0.0001427712,0.003302856],"genre_scores_gemma":[0.9979061,0.0002536826,0.0007259595,0.00009563183,0.00007900095,0.000008384131,0.000151726,0.00002038721,0.0007592229],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001869645,"threshold_uncertainty_score":0.006254613,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01680071861490682,"score_gpt":0.2724959084477884,"score_spread":0.2556951898328815,"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."}}