Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.R454W
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ERCC4

NM_005236.3:p.R454W

Associated Papers

Beyond Huntington's Disease - Late-Onset Chorea Caused by a Homozygous Variant in ERCC4.

Barthel PC et al.

Cerebellum (london, England), 2024

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Tsutakawa SE et al.

Frontiers in Molecular Biosciences, 2021

34966786 (PubMed )
Supplement: Table4.XLSX › ERCC4

SLX4IP acts with SLX4 and XPF-ERCC1 to promote interstrand crosslink repair.

Zhang H et al.

Nucleic Acids Research, 2019

31495888 (PubMed )
Supplement: gkz769_supplemental_files.zip › Supplemental_Figures_and_legends.pdf

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.

Carré G et al.

Journal of the Neurological Sciences, 2017

Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.

Hashimoto K et al.

Dna Repair, 2015

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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."