Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.M1R
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MSH2

NM_000251.3:p.M1R

Associated Papers

Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario.

de Freitas Ribeiro AA et al.

European Journal of Medical Research, 2024

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

Next generation sequencing to decipher concurrent loss of PMS2 and MSH6 in colorectal cancer.

Moreno E et al.

Diagnostic Pathology, 2020

Mismatch repair deficient metastatic colon cancer and urothelial cancer: A case report of sequential immune checkpoint therapy.

Ghatalia P et al.

Cancer Biology & Therapy, 2017

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY et al.

Human Mutation, 2009

Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.

Yap HL et al.

Familial Cancer, 2009

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.

Pros E et al.

Human Mutation, 2006

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 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."