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MSH2 c.43_44delinsCG ;(p.A15R)
Variant ID: 2-47630373-GC-CG
NM_000251.2(
MSH2
):c.43_44delinsCG;(p.A15R)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: A15R
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Type 1 Insulin-Like Growth Factor Receptor/Insulin Receptor Substrate 1 Signaling Confers Pathogenic Activity on Breast Tumor Cells Lacking REST.
Molecular And Cellular Biology
Meyer, Kassondra K; Albaugh, Brittany B; Schoenike, Barry B; Roopra, Avtar A
Publication Date: 2015-09-01
Variant appearance in text: MSH2: A15R
PubMed Link:
26100015
Variant Present in the following documents:
Main text
View BVdb publication page