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Article

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

Turkish journal of medical sciences - 1 Jan 2024

Gezgin Yüksel, Kirnaz Berkay, Baylarov Rauf, Berdeli Afig

Abstract excerpt

Background/aim: Autosomal recessive polycystic kidney disease is an inherited kidney disease. This study aims to detect rare and common DNA variants of the PKHD1 gene using next-generation sequencing (NGS) and to classify them in terms of being pathogenic according to The American College of Medical Genetics and Genomics. Materials and methods: NGS analysis was performed on the DNA of 304 patients who were...

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Identifiers

PMID: 39473742
DOI: 10.55730/1300-0144.5892
PMCID: PMC11518325

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