Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation
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DOI: 10.1007/s40620-021-01048-4
Abstract: Genetic testing of patients with inherited kidney diseases has emerged as a tool of clinical utility by improving the patients’ diagnosis, prognosis, surveillance and therapy. The present study applied a Next Generation Sequencing (NGS)-based panel,… read more here.
Keywords: kidney focused; focused ngs; nephroplex kidney; bbs4 ... See more keywords