Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.T482_M483del1
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ERCC2

NM_000400.4:p.T482_M483del1

Associated Papers

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

Lanzafame M et al.

Human Mutation, 2022

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing.

Yokoi T et al.

Human Genome Variation, 2020

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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."