Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.Q1997*
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PKD1

NM_001009944.3:p.Q1997*

Associated Papers

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.

Telis N et al.

Hgg Advances, 2025

40269498 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Mantovani V et al.

Frontiers in Genetics, 2020

32457805 (PubMed )
Supplement: Data_Sheet_1.PDF

Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.

Ranjzad F et al.

Kidney & Blood Pressure Research, 2018

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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."