Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.T419A
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PKD2

NM_000297.4:p.T419A

Associated Papers

Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.

Fujimaru T et al.

Kidney International Reports, 2024

39291187 (PubMed )
Supplement: mmc1.pdf

The diverse effects of pathogenic point mutations on ion channel activity of a gain-of-function polycystin-2.

Wang Y et al.

The Journal of Biological Chemistry, 2023

PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.

Chung W et al.

Clinical Genetics, 2006

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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."