Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.G669Splc
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MSH2

NM_000251.3:p.G669Splc

Associated Papers

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 › MSH2

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

[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

Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

Overbeek LI et al.

British Journal of Cancer, 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."