Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.R730_E731Splc
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ERCC2

NM_000400.4:p.R730_E731Splc

Associated Papers

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.

Lanzafame M et al.

Human Mutation, 2022

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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."