Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.T541A
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MSH2

NM_000251.3:p.T541A

Associated Papers

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › PMS2

High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

Brea-Fernández AJ et al.

Clinical Genetics, 2014

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Vaughn CP et al.

Human Mutation, 2010

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