Varaico: Literature-Extracted Genetic Variants

Gene:PRDX3
Variant:p.L8delFs
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PRDX3

NM_006793.5:p.L8delFs

Associated Papers

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.

Efthymiou S et al.

Annals of Clinical and Translational Neurology, 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."