Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.A394_D398del5
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ERCC5

NM_000123.4:p.A394_D398del5

Associated Papers

A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.

Liu MW et al.

Molecular Biology Reports, 2024

Next-generation sequencing through multi-gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome.

Wang X et al.

Molecular Genetics & Genomic Medicine, 2023

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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."