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TERT c.2126T>C ;(p.V709A)
Variant ID: 5-1279410-A-G
NM_198253.2(
TERT
):c.2126T>C;(p.V709A)
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:
Structure of active dimeric human telomerase.
Nature Structural & Molecular Biology
Sauerwald, Anselm A; Sandin, Sara S; Cristofari, Gaƫl G; Scheres, Sjors H W SH; Lingner, Joachim J; Rhodes, Daniela D
Publication Date: 2013-04
Variant appearance in text: TERT: V709A
PubMed Link:
23474713
Variant Present in the following documents:
Main text
emss-51873.pdf
View BVdb publication page