Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.G71Splc
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MSH2

NM_000251.3:p.G71Splc

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

Pathogenic Insights into DNA Mismatch Repair (MMR) Genes-Proteins and Microsatellite Instability: Focus on Adrenocortical Carcinoma and Beyond.

Carsote M et al.

Diagnostics (basel, Switzerland), 2023

Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET.

Raygada M et al.

American Journal of Medical Genetics. Part A, 2021

Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.

Arnold AM et al.

European Journal of Human Genetics : Ejhg, 2020

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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."