Varaico: Literature-Extracted Genetic Variants

Gene:RPUSD1
Variant:p.E124Q
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RPUSD1

NM_058192.3:p.E124Q

Associated Papers

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Luo FM et al.

Frontiers in Neuroscience, 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."