Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.S269*
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MSH2

NM_000251.3:p.S269*

Associated Papers

Comprehensive Analysis of Oncogenic Somatic Alterations of Mismatch Repair Gene in Breast Cancer Patients.

Yan Y et al.

Bioengineering (basel, Switzerland), 2025

40281786 (PubMed )
Supplement: bioengineering-12-00426-s001.zip › bioengineering-3511082-supplementary.pdf

The genetic landscape of Lynch syndrome in the Israeli population.

Abu Shtaya A et al.

Familial Cancer, 2024

39546165 (PubMed )
Supplement: 10689_2024_432_MOESM1_ESM.xlsx › Sheet1

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

van Puijenbroek M et al.

Familial Cancer, 2008

[Recognition of congenital endometrial carcinoma: the importance of family history and investigation of microsatellite instability in the tumour].

Hoogerbrugge N et al.

Nederlands Tijdschrift Voor Geneeskunde, 2007

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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."