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USH2A c.13720G>A ;(p.E4574K)
Variant ID: 1-215847533-C-T
NM_206933.2(
USH2A
):c.13720G>A;(p.E4574K)
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:
A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.
Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17
Variant appearance in text: USH2A: 13720G>A; Glu4574Lys
PubMed Link:
35584624
Variant Present in the following documents:
mmc2.xlsx, sheet 4
View BVdb publication page
Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.
Bmc Genomics
Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW
Publication Date: 2014-08-23
Variant appearance in text: USH2A: E4574K
PubMed Link:
25151476
Variant Present in the following documents:
Main text
12864_2013_Article_6386.pdf
View BVdb publication page