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EGR1 c.411_412del ;(p.S138Pfs*77)
Variant ID: 5-137802546-CTT-C
NM_001964.2(
EGR1
):c.411_412del;(p.S138Pfs*77)
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:
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Bmc Medical Genomics
Semyachkina, Alla Nikolaevna AN; Voskoboeva, Elena Yurievna EY; Nikolaeva, Ekaterina Alexandrovna EA; Zakharova, Ekaterina Yurievna EY
Publication Date: 2021-03-06
Variant appearance in text: 225: 410_411delTT
PubMed Link:
33676511
Variant Present in the following documents:
Main text
View BVdb publication page