Varaico: Literature-Extracted Genetic Variants

Gene:PDYN
Variant:p.L211S
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PDYN

NM_024411.5:p.L211S

Associated Papers

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Ghorbani F et al.

Frontiers in Genetics, 2022

Spinocerebellar ataxia type 23 (SCA23): a review.

Wu F et al.

Journal of Neurology, 2021

Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.

Smeets CJ et al.

Human Molecular Genetics, 2016

The first Japanese familial case of spinocerebellar ataxia 23 with a novel mutation in the PDYN gene.

Saigoh K et al.

Parkinsonism & Related Disorders, 2015

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

Fawcett K 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

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."