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Exome Reanalysis Identifies Novel Candidate Genes Associated with Congenital Anomalies of the Kidney and Urinary Tract in China

2026-02-09

Abstract excerpt

Congenital anomalies of the kidney and urinary tract (CAKUT) are the primary cause of pediatric kidney failure, yet the genetic etiologies remain elusive for most affected individuals. Reanalysis of trio exome sequencing data from 80 Chinese CAKUT patients identified 32 rare, predicted deleterious variants. Replication in unrelated families from a national multicenter database prioritized four novel candidate gene...

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Literature Corpus work
9b748da1-27e0-5dad-ab54-e216583053a2
DOI
10.64898/2026.02.03.26345078
Open publication

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Exome Reanalysis Identifies Novel Candidate Genes Associated with Congenital Anomalies of the Kidney and Urinary Tract in ChinaDOI 10.64898/2026.02.03.26345078
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