Exome-First Strategy in Adult Patients With CKD: A Cohort Study

INTRODUCTION: Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of...

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Detalles Bibliográficos
Autores principales: Doreille, Alice, Lombardi, Yannis, Dancer, Marine, Lamri, Radoslava, Testard, Quentin, Vanhoye, Xavier, Lebre, Anne-Sophie, Garcia, Hugo, Rafat, Cédric, Ouali, Nacera, Luque, Yosu, Izzedine, Hassan, Esteve, Emmanuel, Cez, Alexandre, Petit-Hoang, Camille, François, Hélène, Marchal, Armance, Letavernier, Emmanuel, Frémeaux-Bacchi, Véronique, Boffa, Jean-Jacques, Rondeau, Eric, Raymond, Laure, Mesnard, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10014383/
https://www.ncbi.nlm.nih.gov/pubmed/36938085
http://dx.doi.org/10.1016/j.ekir.2022.12.007

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