{"id":"W1483951471","doi":"10.1038/ng.3289","title":"Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export","year":2015,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":316,"is_retracted":false,"has_abstract":false,"ca_institutions":"Toronto Western Hospital","funders":"National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Heart, Lung, and Blood Institute; U.S. Public Health Service; Laboratoire d'Excellence EpiGenMed; Institut National de la Santé et de la Recherche Médicale; Institut National Du Cancer; University of California, Los Angeles; National Institutes of Health; Fondation pour la Recherche Médicale; Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco; Agence Nationale de la Recherche; European Commission; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Servicio Gallego de Salud; Instituto de Salud Carlos III; Women's Health Initiative","keywords":"PDGFRB; PDGFB; Biology; Nephrocalcinosis; Mutation; Calcification; Genetics; Gene; Internal medicine; Receptor; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001074996,0.0001372932,0.0001934847,0.00008242828,0.00003070468,0.00001136982,0.00005366692,0.000236737,0.000003053598],"category_scores_gemma":[0.0001366235,0.000113027,0.00002800803,0.0003050252,0.00003879831,0.00003803273,0.00001333586,0.0002778927,0.00001508544],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001984256,"about_ca_system_score_gemma":0.0003156856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001818879,"about_ca_topic_score_gemma":0.0001264756,"domain_scores_codex":[0.9990484,0.00003314942,0.0001866251,0.0002296834,0.0003050433,0.0001970666],"domain_scores_gemma":[0.999375,0.00003062928,0.00008264987,0.0002246901,0.0001680516,0.0001189319],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006202367,0.001619627,0.9474226,0.00001220316,0.0003099849,0.0003553026,0.002018212,0.0003219504,0.001972664,0.00006018894,0.04310703,0.002180023],"study_design_scores_gemma":[0.007629176,0.0004093929,0.986509,0.00002273876,0.0001334287,0.00001879635,0.000203024,0.0004185296,0.001885955,0.0001651185,0.002446854,0.0001580206],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989921,0.006049038,0.0001310675,0.000641714,0.0001508378,0.0004598946,0.00003370582,0.00003992388,0.002572863],"genre_scores_gemma":[0.9958669,0.00008666163,0.001092661,0.001018489,0.00005793461,0.00003450839,0.0008993942,0.00002292841,0.0009205259],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04066017,"threshold_uncertainty_score":0.4609106,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0275920716525454,"score_gpt":0.3072976433349089,"score_spread":0.2797055716823635,"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."}}