Varaico: Literature-Extracted Genetic Variants

Gene:PRORP
Variant:p.E328D
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PRORP

NM_014672.4:p.E328D

Associated Papers

Ataxia As New Presentation of Likely Combined Oxidative Phosphorylation Deficiency 54 (COXPD54): A Case Report and Literature Review.

Bin Khunayfir A et al.

Movement Disorders Clinical Practice, 2025

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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."