MSH2 c.595_596inv ;(p.C199H)

Variant ID: 2-47637461-TG-CA

NM_000251.2(MSH2):c.595_596inv;(p.C199H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: MSH2: C199H
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Repair of 8-oxoG:A mismatches by the MUTYH glycosylase: Mechanism, metals and medicine.

Free Radical Biology & Medicine
Banda, Douglas M DM; Nuñez, Nicole N NN; Burnside, Michael A MA; Bradshaw, Katie M KM; David, Sheila S SS
Publication Date: 2017-06

Variant appearance in text: MSH2: C199H
PubMed Link: 28087410
Variant Present in the following documents:
  • Main text
View BVdb publication page