Varaico: Literature-Extracted Genetic Variants

Gene:PDYN
Variant:p.R138S
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PDYN

NM_024411.5:p.R138S

Associated Papers

Spinocerebellar ataxia type 23 (SCA23): a review.

Wu F et al.

Journal of Neurology, 2021

The frequency of spinocerebellar ataxia type 23 in a UK population.

Fawcett K et al.

Journal of Neurology, 2013

Mutations in PDYN are not responsible for multiple system atrophy.

Fogel BL et al.

Journal of Neurology, 2013

Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population.

Liu YT et al.

Neuroscience Letters, 2012

Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.

Fogel BL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2012

Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.

Bakalkin G 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."