DMD c.9689del ;(p.D3230Afs*53)

Variant ID: X-31222196-GT-G

NM_004006.2(DMD):c.9689del;(p.D3230Afs*53)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.

Journal Of Zhejiang University. Science. B
Yang, Yan-Mei YM; Yan, Kai K; Liu, Bei B; Chen, Min M; Wang, Li-Ya LY; Huang, Ying-Zhi YZ; Qian, Ye-Qing YQ; Sun, Yi-Xi YX; Li, Hong-Ge HG; Dong, Min-Yue MY
Publication Date: 2019

Variant appearance in text: DMD: 9689delA; Asp3230AlafsX53
PubMed Link: 31379145
Variant Present in the following documents:
  • Main text
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