DMD c.8692C>T ;(p.Q2898*)

Variant ID: X-31496468-G-A

NM_004006.2(DMD):c.8692C>T;(p.Q2898*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.

Scientific Reports
Sugihara, Hidetoshi H; Teramoto, Naomi N; Nakamura, Katsuyuki K; Shiga, Takanori T; Shirakawa, Taku T; Matsuo, Masafumi M; Ogasawara, Masashi M; Nishino, Ichizo I; Matsuwaki, Takashi T; Nishihara, Masugi M; Yamanouchi, Keitaro K
Publication Date: 2020-10-12

Variant appearance in text: DMD: 8692C>T; Q2898X
PubMed Link: 33046751
Variant Present in the following documents:
  • 41598_2020_73315_MOESM1_ESM.pdf
View BVdb publication page



Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.

European Journal Of Human Genetics : Ejhg
Mercier, Sandra S; Toutain, Annick A; Toussaint, Aurélie A; Raynaud, Martine M; de Barace, Claire C; Marcorelles, Pascale P; Pasquier, Laurent L; Blayau, Martine M; Espil, Caroline C; Parent, Philippe P; Journel, Hubert H; Lazaro, Leila L; Andoni Urtizberea, Jon J; Moerman, Alexandre A; Faivre, Laurence L; Eymard, Bruno B; Maincent, Kim K; Gherardi, Romain R; Chaigne, Denys D; Ben Yaou, Rabah R; Leturcq, France F; Chelly, Jamel J; Desguerre, Isabelle I
Publication Date: 2013-08

Variant appearance in text: DMD: 8692C>T; Gln2898X
PubMed Link: 23299919
Variant Present in the following documents:
  • Main text
View BVdb publication page