Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.N2832S
Back to variants list

PKD1

NM_001009944.3:p.N2832S

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

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Guan B et al.

Frontiers in Oncology, 2022

35372080 (PubMed )
Supplement: Table_6.xlsx › table_S6
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."