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Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 25 Jan 2021

Mansilla M Adela, Sompallae Ramakrishna R, Nishimura Carla J, Kwitek Anne E, Kimble Mycah J, Freese Margaret E, Campbell Colleen A, Smith Richard J, Thomas Christie P

Abstract excerpt

BACKGROUND: The clinical diagnosis of genetic renal diseases may be limited by the overlapping spectrum of manifestations between diseases or by the advancement of disease where clues to the original process are absent. The objective of this study was to determine whether genetic testing informs diagnosis and facilitates management of kidney disease patients. METHODS: We developed a comprehensive genetic testing...

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Identifiers

PMID: 31738409
DOI: 10.1093/ndt/gfz173
PMCID: PMC7834596

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