Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
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Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney
Copy number variations associate with different developmental phenotypes and represent a major cause of congenital anomalies of the kidney and urinary tract (CAKUT). Because rare pathogenic copy number variations are often large and contain multiple genes, identification of the underlying genetic drivers has proven to be difficult. Here we studied the role of rare copy number variations in 80 p...
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ژورنال
عنوان ژورنال: Kidney International
سال: 2015
ISSN: 0085-2538
DOI: 10.1038/ki.2015.239