DMD c.2086del ;(p.V696*)

Variant ID: X-32563357-AC-A

NM_004006.2(DMD):c.2086del;(p.V696*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

Child Neurology Open
Chan, Sophelia H S SHS; Lo, Ivan F M IFM; Cherk, Sharon W W SWW; Cheng, Wai Wai WW; Fung, Eva L W ELW; Yeung, Wai Lan WL; Ngan, Mary M; Lee, Wing Cheong WC; Kwong, Ling L; Wong, Suet Na SN; Ma, Che Kwan CK; Tai, Shuk Mui SM; Ng, Grace S F GSF; Wu, Shun Ping SP; Wong, Virginia C N VCN
Publication Date: 2015

Variant appearance in text: DMD: 2086del
PubMed Link: 28503591
Variant Present in the following documents:
  • Main text
  • 10.1177_2329048X15585345.pdf
View BVdb publication page