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MLH1 c.470A>T ;(p.Y157F)
Variant ID: 3-37050321-A-T
NM_000249.3(
MLH1
):c.470A>T;(p.Y157F)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Functional studies and homology modeling of Msh2-Msh3 predict that mispair recognition involves DNA bending and strand separation.
Molecular And Cellular Biology
Dowen, Jill M JM; Putnam, Christopher D CD; Kolodner, Richard D RD
Publication Date: 2010-07
Variant appearance in text: MLH1: Y157F
PubMed Link:
20421420
Variant Present in the following documents:
Main text
View BVdb publication page