Original paper
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing...
Paper Details
Title
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Published Date
Dec 21, 2018
Journal
Volume
51
Issue
1
Pages
117 - 127
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Notes
History