{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002912692,0.002184436,0.0008530429,0.001334546,0.0006562843,0.0007419993,0.001422378,0.004130032,0.00403373],"category_scores_gemma":[0.001499975,0.0005777918,0.0008709099,0.001015197,0.001654794,0.0004407136,0.000977362,0.001704931,0.000730044],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007983917,"about_ca_system_score_gemma":0.0005650432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002127087,"about_ca_topic_score_gemma":0.002065333,"domain_scores_codex":[0.9995087,0.00004467615,0.00007224114,0.0001310983,0.0001736724,0.00006959039],"domain_scores_gemma":[0.9988017,0.0004055757,0.0004760006,0.00006603538,0.00007701853,0.0001736113],"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":[0.0009719889,0.0001682418,0.01571978,0.0002504197,0.0003185361,0.7724276,0.0003551724,0.0006442004,0.195281,0.001467798,0.002250486,0.01014479],"study_design_scores_gemma":[0.0003083844,0.0002591572,0.04612416,0.00009028253,0.0004070853,0.8561975,0.0002816725,0.002220829,0.08661,0.002435345,0.004978235,0.00008737924],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9784419,0.004581209,0.003481841,0.00292059,0.0003791613,0.00005071018,0.0006920628,0.0005381342,0.008914291],"genre_scores_gemma":[0.9962722,0.0005275616,0.001305574,0.0002329221,0.0001436857,0.000008430334,0.0001323511,0.00006526923,0.001311961],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004130032,"threshold_uncertainty_score":0.01349419,"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."}}