Varaico: Literature-Extracted Genetic Variants

Gene:PNPLA8
Variant:p.L390insFs
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PNPLA8

NM_001256007.3:p.L390insFs

Associated Papers

Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.

Cook SR et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.

Cocostîrc V et al.

Animals : an Open Access Journal From Mdpi, 2023

A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia.

Abitbol M et al.

Animal Genetics, 2022

Phenotypic and genetic aspects of hereditary ataxia in dogs.

Stee K et al.

Journal of Veterinary Internal Medicine, 0

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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."