Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q4005*
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PKD1

NM_001009944.3:p.Q4005*

Associated Papers

Kidney Cysts in Autosomal Dominant Polycystic Kidney Disease and Alport Syndrome: Two Familial Cases Illustrating Diagnostic Challenges.

Bais T et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025

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

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

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

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

Ali H et al.

Clinical Kidney Journal, 2023

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

Yu C et al.

Bmc Medical Genetics, 2011

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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."