Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.M1350R
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WRN

NM_000553.6:p.M1350R

Associated Papers

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 Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Yokote K et al.

Human Mutation, 2017

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Oshima J et al.

Gerontology, 2014

DNA helicases associated with genetic instability, cancer, and aging.

Suhasini AN et al.

Advances in Experimental Medicine and Biology, 2013

Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.

Monnat RJ

Seminars in Cancer Biology, 2010

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

Friedrich K et al.

Human Genetics, 2010

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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