Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.Q314del1
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MSH2

NM_000251.3:p.Q314del1

Associated Papers

Mitochondrial defects and metabolic vulnerabilities in Lynch syndrome-associated MSH2-deficient endometrial cancer.

Bowen MB et al.

Jci Insight, 2025

39964762 (PubMed )
Supplement: jciinsight-10-185946-s270.xlsx › MSH2KOm00all_Paired_ANNOVARSNVs

A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

Pierre-Noël E et al.

Familial Cancer, 2022

Fertility-sparing treatment for endometrial cancer and atypical endometrial hyperplasia in patients with Lynch Syndrome: Molecular diagnosis after immunohistochemistry of MMR proteins.

Catena U et al.

Frontiers in Medicine, 2022

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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."