Article

Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders

2024-11-06

Abstract excerpt

Kidney anomalies (KA) are developmental disorders that commonly cause pediatric chronic kidney disease and mortality. We examined rare coding variants in 248 KA trios and 1,742 singleton KA cases and compared them to 22,258 controls. Diagnostic and candidate diagnostic variants were detected in 14.1% of cases. We detected a significant enrichment of rare damaging variants in constrained genes expressed during kidn...

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Literature Corpus work: 5e63a834-e103-5126-a8dd-f9bd7da8a6cf
DOI: 10.1101/2024.11.05.24316672

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