Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1636*
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PKD1

NM_001009944.3:p.Q1636*

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

In vivo base editing reduces liver cysts in autosomal dominant polycystic kidney disease.

Ibel A et al.

Biorxiv : the Preprint Server for Biology, 2025

Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.

Zhang M et al.

Nephrology (carlton, Vic.), 2019

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.

Rossetti S et al.

Lancet (london, England), 2003

A complete mutation screen of the ADPKD genes by DHPLC.

Rossetti S et al.

Kidney International, 2002

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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."