Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.S2164*
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PKD1

NM_001009944.3:p.S2164*

Associated Papers

Identification of novel PKD1 mutations in two Chinese families with autosomal dominant polycystic kidney disease by targeted next generation sequencing.

Liu Q et al.

Chinese Medical Journal, 2020

[An analysis for the phenotype and genotype of autosomal dominant polycystic kidney disease from two Chinese families].

Gao DX et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).

Thongnoppakhun W et al.

Bmc Medical Genetics, 2004

A complete mutation screen of the ADPKD genes by DHPLC.

Rossetti S et al.

Kidney International, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."