Varaico: Literature-Extracted Genetic Variants

Gene:PRDX3
Variant:p.F104Splc
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PRDX3

NM_006793.5:p.F104Splc

Associated Papers

A homozygous PRDX3 pathogenic variant in a paediatric case of spinocerebellar ataxia type 32.

Yang J et al.

Neurogenetics, 2025

Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia.

Wang G et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

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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."