Varaico: Literature-Extracted Genetic Variants

Gene:RCC1
Variant:p.S256F
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RCC1

NM_001381865.2:p.S256F

Associated Papers

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Harkness JR et al.

The Lancet. Neurology, 2025

RCC1 isoforms differ in their affinity for chromatin, molecular interactions and regulation by phosphorylation.

Hood FE et al.

Journal of Cell Science, 2007

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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."