Varaico: Literature-Extracted Genetic Variants

Gene:PDYN
Variant:p.R25Q
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PDYN

NM_024411.5:p.R25Q

Associated Papers

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed

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

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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."