Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.G670fs
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ERCC2

NM_000400.4:p.G670fs

Associated Papers

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

Rezaei M et al.

The Journal of Clinical Investigation, 2024

39545410 (PubMed )
Supplement: jci-134-170669-s068.xlsx › Supplemental_Table_2

TFIIH central activity in nucleotide excision repair to prevent disease.

Theil AF et al.

Dna Repair, 2023

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

Emmert S et al.

Experimental Dermatology, 2009

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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."