DMD c.9885del ;(p.V3297Sfs*33)

Variant ID: X-31200944-GC-G

NM_004006.2(DMD):c.9885del;(p.V3297Sfs*33)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: 9885del; Val3297SerfsX33
PubMed Link: 23536893
Variant Present in the following documents:
  • Main text
  • pone.0059916.pdf
View BVdb publication page