DMD c.490_491delinsCG ;(p.S164R)

Variant ID: X-32834624-GA-CG

NM_004006.2(DMD):c.490_491delinsCG;(p.S164R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: DMD: S164R
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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Dystrophin immunity in Duchenne's muscular dystrophy.

The New England Journal Of Medicine
Mendell, Jerry R JR; Campbell, Katherine K; Rodino-Klapac, Louise L; Sahenk, Zarife Z; Shilling, Chris C; Lewis, Sarah S; Bowles, Dawn D; Gray, Steven S; Li, Chengwen C; Galloway, Gloria G; Malik, Vinod V; Coley, Brian B; Clark, K Reed KR; Li, Juan J; Xiao, Xiao X; Samulski, Jade J; McPhee, Scott W SW; Samulski, R Jude RJ; Walker, Christopher M CM
Publication Date: 2010-10-07

Variant appearance in text: DMD: S164R
PubMed Link: 20925545
Variant Present in the following documents:
  • Main text
View BVdb publication page