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EGR1 c.49_50delinsAT ;(p.S17I)
Variant ID: 5-137801499-TC-AT
NM_001964.2(
EGR1
):c.49_50delinsAT;(p.S17I)
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:
lncMGPF is a novel positive regulator of muscle growth and regeneration.
Journal Of Cachexia, Sarcopenia And Muscle
Lv, Wei W; Jin, Jianjun J; Xu, Zaiyan Z; Luo, Hongmei H; Guo, Yubo Y; Wang, Xiaojing X; Wang, Shanshan S; Zhang, Jiali J; Zuo, Hao H; Bai, Wei W; Peng, Yaxing Y; Tang, Junming J; Zhao, Shuhong S; Zuo, Bo B
Publication Date: 2020-12
Variant appearance in text: 225: S17I
PubMed Link:
32954689
Variant Present in the following documents:
Main text
JCSM-11-1723.pdf
View BVdb publication page
Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.
Plos Neglected Tropical Diseases
Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A
Publication Date: 2015-01
Variant appearance in text: 225: Ser17Ile
PubMed Link:
25568942
Variant Present in the following documents:
pntd.0003404.s019.xlsx, sheet 1
View BVdb publication page