Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.G675fs
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ERCC2

NM_000400.4:p.G675fs

Associated Papers

Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.

Seo ES et al.

Nature Communications, 2024

39333105 (PubMed )
Supplement: 41467_2024_52128_MOESM4_ESM.xlsx › Supple_Data2_SMC_CPG_list

Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.

Aoto S et al.

Stem Cell Research & Therapy, 2019

A 10-year follow-up of a child with mild case of xeroderma pigmentosum complementation group D diagnosed by whole-genome sequencing.

Ono R 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."