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EGR1 c.1390_1391delinsTT ;(p.T464F)
Variant ID: 5-137803528-AC-TT
NM_001964.2(
EGR1
):c.1390_1391delinsTT;(p.T464F)
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:
Function of interfacial prolines at the transmitter-binding sites of the neuromuscular acetylcholine receptor.
The Journal Of Biological Chemistry
Gupta, Shaweta S; Purohit, Prasad P; Auerbach, Anthony A
Publication Date: 2013-05-03
Variant appearance in text: 225: T464F
PubMed Link:
23519471
Variant Present in the following documents:
Main text
View BVdb publication page