Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.E120_V121Splc
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ERCC2

NM_000400.4:p.E120_V121Splc

Associated Papers

A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma.

Kabbage M et al.

Genes, 2022

36011265 (PubMed )
Supplement: genes-13-01355-s001.zip › Table_S2.xls › Feuil1

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Jaballah-Gabteni A et al.

Journal of Translational Medicine, 2019

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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."