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MSH2 c.840A>C ;(p.L280F)
Variant ID: 2-47641455-A-C
NM_000251.2(
MSH2
):c.840A>C;(p.L280F)
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:
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: L280F
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Genome Comparisons of Candida glabrata Serial Clinical Isolates Reveal Patterns of Genetic Variation in Infecting Clonal Populations.
Frontiers In Microbiology
Carreté, Laia L; Ksiezopolska, Ewa E; Gómez-Molero, Emilia E; Angoulvant, Adela A; Bader, Oliver O; Fairhead, Cécile C; Gabaldón, Toni T
Publication Date: 2019
Variant appearance in text: MSH2: L280F
PubMed Link:
30809200
Variant Present in the following documents:
Main text
fmicb-10-00112.pdf
View BVdb publication page
Evolutionary Emergence of Drug Resistance in Candida Opportunistic Pathogens.
Genes
Ksiezopolska, Ewa E; Gabaldón, Toni T
Publication Date: 2018-09-19
Variant appearance in text: MSH2: L280F
PubMed Link:
30235884
Variant Present in the following documents:
Main text
genes-09-00461.pdf
View BVdb publication page