Varaico: Literature-Extracted Genetic Variants

Gene:PRDX3
Variant:p.S12_V13Splc
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PRDX3

NM_006793.5:p.S12_V13Splc

Associated Papers

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

A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.

Rafeeq MM et al.

Neurogenetics, 2023

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

Rebelo AP et al.

Brain : a Journal of Neurology, 2021

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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."