Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis

Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis

Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent hereditary kidney disorder. Between 85% and 90% of cases result from variations in the PKD1 and PKD2 genes. Over 30 genes have been associated with ADPKD, contributing to its heterogeneity. This study aimed to investigate nov...

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Main Authors: Hande Aypek, Rumeysa Fatma Balaban, Nuseybe Huriyet, Ebrucan Bulut, Gulsah Cecener, Suat Akgur, Orhan Gorukmez, Ufuk Unal, Guven Ozkaya, Alparslan Ersoy, Aysegul Oruc, Cuma Bulent Gul, Abdulmecit Yildiz
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Renal Failure
Subjects:
Autosomal dominant polycystic kidney disease (ADPKD)
PKD1
PKD2
whole exome sequencing (WES)
Online Access:https://www.tandfonline.com/doi/10.1080/0886022X.2025.2547306
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https://www.tandfonline.com/doi/10.1080/0886022X.2025.2547306

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