Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.D687A
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ERCC4

NM_005236.3:p.D687A

Associated Papers

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.

Apelt K et al.

The Journal of Experimental Medicine, 2021

ERCC1/XPF Is Important for Repair of DNA Double-Strand Breaks Containing Secondary Structures.

Li S et al.

Iscience, 2019

Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair.

Hodskinson MR et al.

Molecular Cell, 2014

24726326 (PubMed )
Supplement: mmc1.pdf
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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."