Varaico: Literature-Extracted Genetic Variants

Gene:SPRTN
Variant:p.D473A
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SPRTN

NM_032018.7:p.D473A

Associated Papers

SPRTN patient variants cause global-genome DNA-protein crosslink repair defects.

Weickert P et al.

Nature Communications, 2023

Spartan deficiency causes genomic instability and progeroid phenotypes.

Maskey RS et al.

Nature Communications, 2014

Spartan/C1orf124 is important to prevent UV-induced mutagenesis.

Machida Y et al.

Cell Cycle (georgetown, Tex.), 2012

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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."