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ADAR c.305_306del ;(p.Q102Rfs*22)
Variant ID: 1-154574812-CCT-C
NM_001111.4(
ADAR
):c.305_306del;(p.Q102Rfs*22)
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 clinical characteristics of children with Aicardi-Goutieres syndrome in China.
World Journal Of Pediatrics : Wjp
Wang, Wei W; Wang, Wei W; He, Ting-Yan TY; Zou, Li-Ping LP; Li, Wen-Dao WD; Yu, Zhong-Xun ZX; Ma, Ming-Sheng MS; Yang, Jun J; Song, Hong-Mei HM
Publication Date: 2022-07
Variant appearance in text: ADAR1: 305_306del
PubMed Link:
35551623
Variant Present in the following documents:
Main text
View BVdb publication page
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Frontiers In Immunology
Wang, Wei W; Yu, Zhongxun Z; Gou, Lijuan L; Zhong, Linqing L; Li, Ji J; Ma, Mingsheng M; Wang, Changyan C; Zhou, Yu Y; Ru, Ying Y; Sun, Zhixing Z; Wei, Qijiao Q; Dong, Yanqing Y; Song, Hongmei H
Publication Date: 2020
Variant appearance in text: ADAR1: 305_306del
PubMed Link:
33042144
Variant Present in the following documents:
Main text
fimmu-11-565099.pdf
View BVdb publication page