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NF1 c.5233A>G ;(p.K1745E)
Variant ID: 17-29653235-A-G
NM_001042492.2(
NF1
):c.5233A>G;(p.K1745E)
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:
Human melanoma brain metastases cell line MUG-Mel1, isolated clones and their detailed characterization.
Scientific Reports
Heitzer, Ellen E; Groenewoud, Arwin A; Meditz, Katharina K; Lohberger, Birgit B; Liegl-Atzwanger, Bernadette B; Prokesch, Andreas A; Kashofer, Karl K; Behrens, Diana D; Haybaeck, Johannes J; Kolb-Lenz, Dagmar D; Koefeler, Harald H; Riedl, Sabrina S; Schaider, Helmut H; Fischer, Carina C; Snaar-Jagalska, B Ewa BE; de'Jong, Danielle D; Szuhai, Karoly K; Zweytick, Dagmar D; Rinner, Beate B
Publication Date: 2019-03-11
Variant appearance in text: NF1: K1745E
PubMed Link:
30858407
Variant Present in the following documents:
Main text
41598_2019_Article_40570.pdf
View BVdb publication page