Varaico: Literature-Extracted Genetic Variants

Gene:PDYN
Variant:p.R213H
Back to variants list

PDYN

NM_024411.5:p.R213H

Associated Papers

Spinocerebellar ataxia type 23 (SCA23): a review.

Wu F et al.

Journal of Neurology, 2021

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.

Choy KW et al.

Frontiers in Genetics, 2019

31475041 (PubMed )
Supplement: DataSheet_1.docx

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."