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Diagnostic utility of whole-genome sequencing for nephronophthisis

21 Sept 2020

Abstract excerpt

Abstract Next-generation sequencing has revolutionized the molecular diagnosis of individuals affected by genetic kidney diseases. Indeed, rapid genetic testing in individuals with suspected inherited nephropathy has not only important implications for diagnosis and prognosis but also for genetic counseling. Nephronophthisis (NPHP) and related syndromes, a leading cause of end-stage renal failure, are autosomal...

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PMID: 33024573
DOI: 10.1038/s41525-020-00147-8

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