Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.D716N
Back to variants list

MSH2

NM_000251.3:p.D716N

Associated Papers

No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.

Tesch VK et al.

Frontiers in Immunology, 2018

An American founder mutation in MLH1.

Tomsic J et al.

International Journal of Cancer, 2012

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M et al.

Human Mutation, 2011

High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.

Martínez-Bouzas C et al.

Cancer Letters, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."