Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.E2261*
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PKD1

NM_001009944.3:p.E2261*

Associated Papers

[Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease].

Li H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Yu CC et al.

Npj Genomic Medicine, 2022

35778421 (PubMed )
Supplement: 41525_2022_309_MOESM1_ESM.pdf
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