DMD c.7564C>T ;(p.Q2522*)

Variant ID: X-31747844-G-A

NM_004006.2(DMD):c.7564C>T;(p.Q2522*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


New trends in aminoglycosides use.

Medchemcomm
Fosso, Marina Y MY; Li, Yijia Y; Garneau-Tsodikova, Sylvie S
Publication Date: 2014-08-01

Variant appearance in text: DMD: Q2522X
PubMed Link: 25071928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One
Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P
Publication Date: 2013

Variant appearance in text: DMD: 7564C>T; Gln2522X
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
  • pone.0059916.pdf
View BVdb publication page