MSH6 c.325C>G ;(p.L109V)

Variant ID: 2-48018130-C-G

NM_000179.2(MSH6):c.325C>G;(p.L109V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH6: 325C>G; Leu109Val
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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Mismatch repair deficiency does not mediate clinical resistance to temozolomide in malignant glioma.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Maxwell, Jill A JA; Johnson, Stewart P SP; McLendon, Roger E RE; Lister, David W DW; Horne, Krystle S KS; Rasheed, Ahmed A; Quinn, Jennifer A JA; Ali-Osman, Francis F; Friedman, Allan H AH; Modrich, Paul L PL; Bigner, Darell D DD; Friedman, Henry S HS
Publication Date: 2008-08-01

Variant appearance in text: MSH6: L109V
PubMed Link: 18676759
Variant Present in the following documents:
  • Main text
View BVdb publication page