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EGR1 c.1034G>C ;(p.C345S)
Variant ID: 5-137803172-G-C
NM_001964.2(
EGR1
):c.1034G>C;(p.C345S)
This variant was identified in 2 publications
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: 1034G>C
PubMed Link:
33676511
Variant Present in the following documents:
Main text
View BVdb publication page
Variant discovery in the sheep milk transcriptome using RNA sequencing.
Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15
Variant appearance in text: 225: 1034G>C
PubMed Link:
28202015
Variant Present in the following documents:
12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page