Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A4002fs
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PKD1

NM_001009944.3:p.A4002fs

Associated Papers

Effect of tolvaptan on renal involvement in patients with autosomal dominant polycystic kidney disease according to different gene mutations.

Moriyama T et al.

Clinical and Experimental Nephrology, 2021

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.

Xu D 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."