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

Unexplained mismatch repair deficiency: Case closed.

Eikenboom EL et al.

Hgg Advances, 2023

36624813 (PubMed )
Supplement: mmc1.pdf

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.

Landrith T et al.

Npj Precision Oncology, 2020

32133419 (PubMed )
Supplement: 41698_2020_109_MOESM1_ESM.pdf

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Karam R et al.

Jama Network Open, 2019

31642931 (PubMed )
Supplement: jamanetwopen-2-e1913900-s001.pdf
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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."