Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.P2219_P2224del0
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PKD1

NM_001009944.3:p.P2219_P2224del0

Associated Papers

Genetic analysis of autosomal dominant polycystic kidney disease in Iranian families: a combined Sanger and next-generation sequencing study.

Rafiee M et al.

Journal of Applied Genetics, 2025

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

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.

Ali H et al.

Clinical Kidney Journal, 2023

A single-center analysis of genotype-phenotype characteristics of Chinese patients with autosomal dominant polycystic kidney disease by targeted exome sequencing.

Yan Z et al.

Frontiers in Genetics, 2022

36186434 (PubMed )
Supplement: Table1.XLSX › PKD1

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Seo GH et al.

Clinical Genetics, 2020

32901917 (PubMed )
Supplement: CGE-98-562-s003.xlsx › Supplementary_2

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.

Borràs DM et al.

Human Mutation, 2017

Identification of Biomarkers for PKD1 Using Urinary Exosomes.

Hogan MC et al.

Journal of the American Society of Nephrology : Jasn, 2015

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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."