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Article

Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.

Clinical genetics - 1 Feb 2021

Oh Jiyoung, Shin Jae Il, Lee Keumwha, Lee CheolHo, Ko Younhee, Lee Jin-Sung

Abstract excerpt

Understanding the genetic causes of kidney disease is essential for accurate diagnosis and could lead to improved therapeutic strategies and prognosis. To accurately and promptly identify the genetic background of kidney diseases, we applied a targeted next-generation sequencing gene panel including 203 genes associated with kidney disease, as well as diseases originating in other organs with mimicking symptoms...

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Identifiers

PMID: 33095447
DOI: 10.1111/cge.13869
PMCID: PMC7839754

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