DMD c.9684T>G ;(p.F3228L)

Variant ID: X-31222201-A-C

NM_004006.2(DMD):c.9684T>G;(p.F3228L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin.

Nature Cell Biology
Zhang, Yaohua Y; Li, Yajuan Y; Hu, Qingsong Q; Xi, Yutao Y; Xing, Zhen Z; Zhang, Zhao Z; Huang, Lisa L; Wu, Jianbo J; Liang, Ke K; Nguyen, Tina K TK; Egranov, Sergey D SD; Sun, Chengcao C; Zhao, Zilong Z; Hawke, David H DH; Li, Jin J; Sun, Deqiang D; Kim, Jean J JJ; Zhang, Ping P; Cheng, Jie J; Farida, Abid A; Hung, Mien-Chie MC; Han, Leng L; Darabi, Radbod R; Lin, Chunru C; Yang, Liuqing L
Publication Date: 2020-11

Variant appearance in text: DMD: F3228L
PubMed Link: 33106653
Variant Present in the following documents:
  • NIHMS1630179-supplement-1630179_SourceDataFig2.xlsx, sheet 2
  • nihms-1630179.pdf
  • NIHMS1630179-supplement-1630179_ExtSourceDataFig2.xlsx, sheet 1
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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: F3228L
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



X-Linked Dilated Cardiomyopathy: A Cardiospecific Phenotype of Dystrophinopathy.

Pharmaceuticals (Basel, Switzerland)
Nakamura, Akinori A
Publication Date: 2015-06-09

Variant appearance in text: DMD: F3228L
PubMed Link: 26066469
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-08-00303.pdf
View BVdb publication page