Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.A3294A
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PKD1

NM_001009944.3:p.A3294A

Associated Papers

Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.

Boeykens F et al.

Frontiers in Veterinary Science, 2024

Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats.

Anderson H et al.

Plos Genetics, 2022

First report on the presence of a common pathogenic variant in the PKD1 gene, causing polycystic kidney disease, in a series of related Sphynx cats.

Nowacka-Woszuk J et al.

Topics in Companion Animal Medicine, 0

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