Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.N720fs
Back to variants list

PKD2

NM_000297.4:p.N720fs

Associated Papers

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD.

Chen EWC et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024

38224954 (PubMed )
Supplement: gfad270_supplemental_file.pdf

A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.

Lindemann CH et al.

Kidney International Reports, 2023

36938073 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Intrafamilial Variability of ADPKD.

Lanktree MB et al.

Kidney International Reports, 2019

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

Elisakova V et al.

Bmc Nephrology, 2018

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

Hwang YH et al.

Journal of the American Society of Nephrology : Jasn, 2016

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."