DMD c.6385_6388del ;(p.K2129Hfs*33)

Variant ID: X-32235082-GTCTT-G

NM_004006.2(DMD):c.6385_6388del;(p.K2129Hfs*33)

This variant was identified in 2 publications

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: 6385_6388delAAGA
PubMed Link: 28503591
Variant Present in the following documents:
  • Main text
  • 10.1177_2329048X15585345.pdf
View BVdb publication page



MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai.

Journal Of Clinical Laboratory Analysis
Ji, Xing X; Zhang, Jingmin J; Xu, Yan Y; Long, Fei F; Sun, Wei W; Liu, Xiaoqin X; Chen, Yingwei Y; Jiang, Wenting W
Publication Date: 2015-09

Variant appearance in text: DMD: 6385_6388del
PubMed Link: 25131993
Variant Present in the following documents:
  • Main text
View BVdb publication page