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USH2A c.10633C>A ;(p.R3545=)
Variant ID: 1-215955491-G-T
NM_206933.2(
USH2A
):c.10633C>A;(p.R3545=)
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:
Retinoblastoma from human stem cell-derived retinal organoids.
Nature Communications
Norrie, Jackie L JL; Nityanandam, Anjana A; Lai, Karen K; Chen, Xiang X; Wilson, Matthew M; Stewart, Elizabeth E; Griffiths, Lyra L; Jin, Hongjian H; Wu, Gang G; Orr, Brent B; Tran, Quynh Q; Allen, Sariah S; Reilly, Colleen C; Zhou, Xin X; Zhang, Jiakun J; Newman, Kyle K; Johnson, Dianna D; Brennan, Rachel R; Dyer, Michael A MA
Publication Date: 2021-07-27
Variant appearance in text: USH2A: R3545R
PubMed Link:
34315877
Variant Present in the following documents:
41467_2021_24781_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page