Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.Q861*
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WRN

NM_000553.6:p.Q861*

Associated Papers

Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia.

Rincón A et al.

Case Reports in Genetics, 2019

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

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Friedrich K et al.

Human Genetics, 2010

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.

Muftuoglu M et al.

Human Genetics, 2008

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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."