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EGR1 c.717del ;(p.Y240Tfs*12)
Variant ID: 5-137802853-GC-G
NM_001964.2(
EGR1
):c.717del;(p.Y240Tfs*12)
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:
Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.
Blood Advances
Borogovac, Azra A; Reese, Jessica A JA; Gupta, Samiksha S; George, James N JN
Publication Date: 2022-02-08
Variant appearance in text: 225: 717delC
PubMed Link:
34807988
Variant Present in the following documents:
advancesADV2021005760-suppl1.pdf
View BVdb publication page