Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.S1259*
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ERCC6

NM_000124.4:p.S1259*

Associated Papers

Deciphering pathogenicity of variants of uncertain significance with CRISPR-edited iPSCs.

Guo H et al.

Trends in Genetics : Tig, 2021

Rescue of premature aging defects in Cockayne syndrome stem cells by CRISPR/Cas9-mediated gene correction.

Wang S et al.

Protein & Cell, 2020

Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.

Wu Y et al.

Ophthalmic Genetics, 0

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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."