Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.R669fs
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ERCC2

NM_000400.4:p.R669fs

Associated Papers

Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.

Börcsök J et al.

The Journal of Clinical Investigation, 2025

40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › Figure1CD

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

TAPES: A tool for assessment and prioritisation in exome studies.

Xavier A et al.

Plos Computational Biology, 2019

31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
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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."