Varaico: Literature-Extracted Genetic Variants

Gene:ERCC8
Variant:p.T328S
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ERCC8

NM_000082.4:p.T328S

Associated Papers

Multimodal imaging in a family with Cockayne syndrome with a novel pathogenic mutation in the ERCC8 gene, and significant phenotypic variability.

Cho S et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2020

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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."