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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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