Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.R389fs
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WRN

NM_000553.6:p.R389fs

Associated Papers

Targeting the Werner syndrome protein in microsatellite instability cancers: mechanisms and therapeutic potential.

Chen S et al.

Clinical and Experimental Medicine, 2025

WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family.

Norouzi M et al.

Frontiers in Oncology, 2021

Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Maciaszek JL et al.

Cold Spring Harbor Molecular Case Studies, 2019

31604778 (PubMed )
Supplement: supp_mcs.a004218_Supplemental_Tables.xlsx › Table_S2

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Wu PF et al.

Molecular Medicine Reports, 2017

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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."