Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.A725V
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ERCC2

NM_000400.4:p.A725V

Associated Papers

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

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: Table3.XLSX › ERCC2

Photosensitive form of trichothiodystrophy associated with a novel mutation in the XPD gene.

Brauns B et al.

Photodermatology, Photoimmunology & Photomedicine, 2016

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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."