MLH1 c.597_598del ;(p.E199Dfs*4)

Variant ID: 3-37053505-GGA-G

NM_000249.3(MLH1):c.597_598del;(p.E199Dfs*4)

This variant was identified in 3 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: MLH1: 597_598delGA; Glu199Aspfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Mutation extraction tools can be combined for robust recognition of genetic variants in the literature.

F1000Research
Jimeno Yepes, Antonio A; Verspoor, Karin K
Publication Date: 2014

Variant appearance in text: MLH1: 597_598delGA
PubMed Link: 25285203
Variant Present in the following documents:
  • Main text
  • f1000research-3-4577.pdf
View BVdb publication page



Literature mining of genetic variants for curation: quantifying the importance of supplementary material.

Database : The Journal Of Biological Databases And Curation
Jimeno Yepes, Antonio A; Verspoor, Karin K
Publication Date: 2014

Variant appearance in text: MLH1: 597_598delGA
PubMed Link: 24520105
Variant Present in the following documents:
  • Main text
  • bau003.pdf
View BVdb publication page