Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.V1144fs
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PKD1

NM_001009944.3:p.V1144fs

Associated Papers

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

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.

Yu CC et al.

Npj Genomic Medicine, 2022

35778421 (PubMed )
Supplement: 41525_2022_309_MOESM1_ESM.pdf
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