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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC2

Variant:p.E98D

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ERCC2

NM_000400.4:p.E98D

hg38:chr19:45368696 C>A

Associated Papers

Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.

Espi P et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2018

29178624 (PubMed )

Identification of Damaging nsSNVs in HumanERCC2 Gene.

Fang S et al.

Chemical Biology & Drug Design, 2016

27085493 (PubMed )

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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."