Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q2039*
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PKD1

NM_001009944.3:p.Q2039*

Associated Papers

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype-Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease.

Ercoskun P et al.

Clinical Genetics, 2025

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

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB et al.

Bmc Medical Genetics, 2018

Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples.

Phakdeekitcharoen B et al.

Journal of the American Society of Nephrology : Jasn, 2001

Thirteen novel mutations of the replicated region of PKD1 in an Asian population.

Phakdeekitcharoen B et al.

Kidney International, 2000

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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."