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.




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