Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.E239K
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ERCC4

NM_005236.3:p.E239K

Associated Papers

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Cryo-EM structures of the XPF-ERCC1 endonuclease reveal how DNA-junction engagement disrupts an auto-inhibited conformation.

Jones M et al.

Nature Communications, 2020

Distinct roles of XPF-ERCC1 and Rad1-Rad10-Saw1 in replication-coupled and uncoupled inter-strand crosslink repair.

Seol JH et al.

Nature Communications, 2018

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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."