Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.R327*
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PKD2

NM_000297.4:p.R327*

Associated Papers

WES-based screening of 7,000 newborns: A pilot study in Russia.

Shubina J et al.

Hgg Advances, 2024

39033325 (PubMed )
Supplement: mmc3.xlsx › Table_S2

Regulation of PKD2 channel function by TACAN.

Liu X et al.

The Journal of Physiology, 2023

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Deltas CC

Human Mutation, 2001

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

Koptides M et al.

Human Molecular Genetics, 1999

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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."