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A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases.

Kidney international - 1 Aug 2018

Bullich Gemma, Domingo-Gallego Andrea, Vargas Iván, Ruiz Patricia, Lorente-Grandoso Laura, Furlano Mónica, Fraga Gloria, Madrid Álvaro, Ariceta Gema, Borregán Mar, Piñero-Fernández Juan Alberto, Rodríguez-Peña Lidia, Ballesta-Martínez Maria Juliana, Llano-Rivas Isabel, Meñica Mireia Aguirre, Ballarín José, Torrents David, Torra Roser, Ars Elisabet

Abstract excerpt

Molecular diagnosis of inherited kidney diseases remains a challenge due to their expanding phenotypic spectra as well as the constantly growing list of disease-causing genes. Here we develop a comprehensive approach for genetic diagnosis of inherited cystic and glomerular nephropathies. Targeted next generation sequencing of 140 genes causative of or associated with cystic or glomerular nephropathies was...

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Identifiers

PMID: 29801666
DOI: 10.1016/j.kint.2018.02.027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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