DMD c.4174C>T ;(p.Q1392*)

Variant ID: X-32429928-G-A

NM_004006.2(DMD):c.4174C>T;(p.Q1392*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Develop a Compact RNA Base Editor by Fusing ADAR with Engineered EcCas6e.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Wang, Xing X; Zhang, Renxia R; Yang, Dong D; Li, Guoling G; Fan, Zhanqing Z; Du, Hongting H; Wang, Zikang Z; Liu, Yuanhua Y; Lin, Jiajia J; Wu, Xiaoqing X; Shi, Linyu L; Yang, Hui H; Zhou, Yingsi Y
Publication Date: 2023-04-25

Variant appearance in text: DMD: 4174C>T; Q1392X
PubMed Link: 37098587
Variant Present in the following documents:
  • Main text
  • ADVS-10-2206813.pdf
  • ADVS-10-2206813-s003.pdf
  • ADVS-10-2206813-s002.pdf
View BVdb publication page



Mini-dCas13X-mediated RNA editing restores dystrophin expression in a humanized mouse model of Duchenne muscular dystrophy.

The Journal Of Clinical Investigation
Li, Guoling G; Jin, Ming M; Li, Zhifang Z; Xiao, Qingquan Q; Lin, Jiajia J; Yang, Dong D; Liu, Yuanhua Y; Wang, Xing X; Xie, Long L; Ying, Wenqin W; Wang, Haoqiang H; Zuo, Erwei E; Shi, Linyu L; Wang, Ning N; Chen, Wanjin W; Xu, Chunlong C; Yang, Hui H
Publication Date: 2022-12-13

Variant appearance in text: DMD: 4174C>T
PubMed Link: 36512423
Variant Present in the following documents:
  • jci-133-162809.pdf
  • jci-133-162809-s211.pdf
View BVdb publication page



Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications
Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R
Publication Date: 2021-06-17

Variant appearance in text: DMD: 4174C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics
Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y
Publication Date: 2019

Variant appearance in text: DMD: 4174C>T; Gln1392Ter
PubMed Link: 30833962
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.

Journal Of Clinical Laboratory Analysis
Xu, Ying Y; Li, Yu Y; Song, Tingting T; Guo, Fenfen F; Zheng, Jiao J; Xu, Hui H; Yan, Feng F; Cheng, Lu L; Li, Chunyan C; Chen, Biliang B; Zhang, Jianfang J
Publication Date: 2018-09

Variant appearance in text: DMD: 4174C>T; Gln1392X
PubMed Link: 29604111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Ebiomedicine
Foley, Samantha B SB; Rios, Jonathan J JJ; Mgbemena, Victoria E VE; Robinson, Linda S LS; Hampel, Heather L HL; Toland, Amanda E AE; Durham, Leslie L; Ross, Theodora S TS
Publication Date: 2015-01

Variant appearance in text: DMD: Gln1392*
PubMed Link: 26023681
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page