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Article

New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients.

Biochemical genetics - 1 Dec 2024

Ozyavuz Cubuk Pelin, Akin Duman Tugba

Abstract excerpt

Polycystic kidney disease (PKD) is a common inherited disease characterized by multiple cysts in kidneys and various extra renal manifestations. Molecular diagnosis plays a crucial role in confirming both the clinical diagnosis and preimplantation genetic diagnosis furthermore, selecting appropriate treatment options. This study aimed to expand the understanding of genetic mutations in patients with polycystic...

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PMID: 38971859
DOI: 10.1007/s10528-024-10880-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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