Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.E878_Q879Splc
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MSH2

NM_000251.3:p.E878_Q879Splc

Associated Papers

The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome.

Ito T et al.

Japanese Journal of Clinical Oncology, 2019

In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

Borras E et al.

Cancer Prevention Research (philadelphia, Pa.), 2017

Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Sjursen W et al.

Molecular Genetics & Genomic Medicine, 2016

Deletion Mutations in an Australian Series of HNPCC Patients.

McPhillips M et al.

Hereditary Cancer in Clinical Practice, 2005

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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."