DMD c.457C>T ;(p.Q153*)

Variant ID: X-32834658-G-A

NM_004006.2(DMD):c.457C>T;(p.Q153*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: 457C>T
PubMed Link: 34140489
Variant Present in the following documents:
  • 41467_2021_23996_MOESM1_ESM.pdf
View BVdb publication page



The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders.

Frontiers In Cell And Developmental Biology
Cappella, Marisa M; Elouej, Sahar S; Biferi, Maria Grazia MG
Publication Date: 2021

Variant appearance in text: DMD: 457C>T
PubMed Link: 33937264
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.

Plos One
Kumar, Shalini H SH; Athimoolam, Kalpana K; Suraj, Manikandan M; Das Christu Das, Mary Shoba MS; Muralidharan, Aparna A; Jeyam, Divya D; Ashokan, Jaicy J; Karthikeyan, Priya P; Krishna, Ragav R; Khanna-Gupta, Arati A; Bremadesam Raman, Lakshmi L
Publication Date: 2020

Variant appearance in text: DMD: 457C>T; Gln153Ter
PubMed Link: 32559196
Variant Present in the following documents:
  • Main text
  • pone.0232654.pdf
View BVdb publication page



Duchenne muscular dystrophy hiPSC-derived myoblast drug screen identifies compounds that ameliorate disease in mdx mice.

Jci Insight
Sun, Congshan C; Choi, In Young IY; Rovira Gonzalez, Yazmin I YI; Andersen, Peter P; Talbot, C Conover CC; Iyer, Shama R SR; Lovering, Richard M RM; Wagner, Kathryn R KR; Lee, Gabsang G
Publication Date: 2020-06-04

Variant appearance in text: DMD: 457C>T
PubMed Link: 32343677
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: DMD: 457C>T; Gln153Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
,
Publication Date: 2015-06-26

Variant appearance in text: DMD: Q153X
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM2_ESM.xls, sheet 1
View BVdb publication page