DMD c.5697del ;(p.K1899Nfs*2)

Variant ID: X-32361292-AT-A

NM_004006.2(DMD):c.5697del;(p.K1899Nfs*2)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 5697del; Lys1899Asnfs*2
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Science Advances
Li, Ziyu Z; Gao, Xiangyu X; Peng, Xinxin X; May Chen, Mei-Ju MJ; Li, Zhe Z; Wei, Bin B; Wen, Xianzi X; Wei, Baoye B; Dong, Yu Y; Bu, Zhaode Z; Wu, Aiwen A; Wu, Qi Q; Tang, Lei L; Li, Zhongwu Z; Liu, Yiqiang Y; Zhang, Li L; Jia, Shuqin S; Zhang, Lianhai L; Shan, Fei F; Zhang, Ji J; Wu, Xiaojiang X; Ji, Xin X; Ji, Ke K; Wu, Xiaolong X; Shi, Jinyao J; Xing, Xiaofang X; Wu, Jianmin J; Lv, Guoqing G; Shen, Lin L; Ji, Xuwo X; Liang, Han H; Ji, Jiafu J
Publication Date: 2020-02

Variant appearance in text: DMD: K1899Nfs*2
PubMed Link: 32133402
Variant Present in the following documents:
  • aay4211_Table_S2.xlsx, sheet 1
View BVdb publication page



Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Bmc Medical Genetics
Zhang, Jingjing J; Ma, Dingyuan D; Liu, Gang G; Wang, Yuguo Y; Liu, An A; Li, Li L; Luo, Chunyu C; Hu, Ping P; Xu, Zhengfeng Z
Publication Date: 2019-11-14

Variant appearance in text: DMD: 5697delA; Lys1899Asnfs
PubMed Link: 31727011
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_912.pdf
View BVdb publication page



Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 5697del; Lys1899Asnfs*2
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page



Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14

Variant appearance in text: DMD: K1899Nfs*2
PubMed Link: 29760388
Variant Present in the following documents:
  • 41467_2018_4008_MOESM3_ESM.xlsx, sheet 21
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: DMD: 5697delA; K1899fs
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: DMD: 5697delA; K1899fs*2
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page