Varaico: Literature-Extracted Genetic Variants

Gene:PNP
Variant:p.R133C
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PNP

NM_000270.4:p.R133C

Associated Papers

VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.

Martín-Doncel E et al.

Scientific Reports, 2019

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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."