DMD c.8854C>T ;(p.Q2952*)

Variant ID: X-31496306-G-A

NM_004006.2(DMD):c.8854C>T;(p.Q2952*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: DMD: 8854C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.

Bmc Medical Genomics
Zhong, Xingjian X; Cui, Siying S; Liu, Lina L; Yang, Yuxia Y; Kong, Xiangdong X
Publication Date: 2021-07-08

Variant appearance in text: DMD: 8854C>T
PubMed Link: 34238289
Variant Present in the following documents:
  • 12920_2021_Article_1024.pdf
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: 8854C>T; Gln2952Ter
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page