Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.T709P
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ERCC2

NM_000400.4:p.T709P

Associated Papers

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Agolini E et al.

Clinical Genetics, 2021

Revisiting the structural features of the xeroderma pigmentosum proteins: Focus on mutations and knowledge gaps.

Feltes BC

Mutation Research. Reviews in Mutation Research, 0

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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."