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TEK c.52G>A ;(p.G18R)
Variant ID: 9-27109640-G-A
NM_000459.3(
TEK
):c.52G>A;(p.G18R)
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:
Gene expression regulation by upstream open reading frames and human disease.
Plos Genetics
Barbosa, Cristina C; Peixeiro, Isabel I; Romão, Luísa L
Publication Date: 2013
Variant appearance in text: TIE2: Gly18Arg
PubMed Link:
23950723
Variant Present in the following documents:
Main text
pgen.1003529.pdf
View BVdb publication page