Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R2767P
Back to variants list

PKD1

NM_001009944.3:p.R2767P

Associated Papers

Mutation Analysis of PKD1 and PKD2 Genes in a Large Italian Cohort Reveals Novel Pathogenic Variants Including a Novel Complex Rearrangement.

Orisio S et al.

Nephron, 2024

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

Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.

Hosseinpour M et al.

Archives of Iranian Medicine, 2022

37543885 (PubMed )
Supplement: aim-25-600-s003.xlsx › PKD1_2__PKHD1
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."