DMD c.9953_9954del ;(p.E3318Vfs*15)

Variant ID: X-31200874-ACT-A

NM_004006.2(DMD):c.9953_9954del;(p.E3318Vfs*15)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.

Molecular Genetics & Genomic Medicine
Park, Joonhong J; Jang, Woori W; Han, Ji Yoon JY
Publication Date: 2019-09

Variant appearance in text: DMD: 9953_9954delAG; Glu3318Valfs*15
PubMed Link: 31347299
Variant Present in the following documents:
  • Main text
  • MGG3-7-e862.pdf
View BVdb publication page