Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.Y577_V578insFs
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ERCC4

NM_005236.3:p.Y577_V578insFs

Associated Papers

Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Kashiyama K et al.

American Journal of Human Genetics, 2013

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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."