Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.D394_D398del5
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ERCC6

NM_000124.4:p.D394_D398del5

Associated Papers

Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.

Chen J et al.

Frontiers in Genetics, 2025

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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."