Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.F3018fs
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PKD1

NM_001009944.3:p.F3018fs

Associated Papers

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.

Chen Q et al.

Bmc Medical Genomics, 2025

A novel frameshift PKD1 mutation in a Chinese patient with autosomal dominant polycystic kidney disease and azoospermia: A case report.

Meng J et al.

Experimental and Therapeutic Medicine, 2019

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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."