Varaico: Literature-Extracted Genetic Variants

Gene:PDE8B
Variant:p.V32delFs
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PDE8B

NM_003719.5:p.V32delFs

Associated Papers

A Novel PDE8B Gene Variant Associated with Autosomal Dominant Striatal Degeneration.

Chunga N et al.

Movement Disorders Clinical Practice, 2024

Clinical findings of autosomal-dominant striatal degeneration and PDE8B mutation screening in parkinsonism and related disorders.

Ni J et al.

Parkinsonism & Related Disorders, 2019

PDE8B mutation is not associated with Parkinson's disease in a Taiwanese population.

Fan TS et al.

Neurobiology of Aging, 2018

Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.

Appenzeller S et al.

American Journal of Human Genetics, 2010

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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."