DMD c.6T>G ;(p.L2=)

Variant ID: X-33229424-A-C

NM_004006.2(DMD):c.6T>G;(p.L2=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Minoche, Andre E AE; Horvat, Claire C; Johnson, Renee R; Gayevskiy, Velimir V; Morton, Sarah U SU; Drew, Alexander P AP; Woo, Kerhan K; Statham, Aaron L AL; Lundie, Ben B; Bagnall, Richard D RD; Ingles, Jodie J; Semsarian, Christopher C; Seidman, J G JG; Seidman, Christine E CE; Dinger, Marcel E ME; Cowley, Mark J MJ; Fatkin, Diane D
Publication Date: 2019-03

Variant appearance in text: DMD: 6T>G
PubMed Link: 29961767
Variant Present in the following documents:
  • Main text
View BVdb publication page



The feasibility of diaphragmatic transplantation as potential therapy for treatment of respiratory failure associated with Duchenne muscular dystrophy: acute canine model.

The Journal Of Thoracic And Cardiovascular Surgery
Krupnick, Alexander Sasha AS; Gelman, Andrew E AE; Okazaki, Mikio M; Lai, Jiaming J; Das, Nitin N; Sugimoto, Seiichiro S; Tung, Thomas H TH; Richardson, Steven B SB; Patterson, G Alexander GA; Kreisel, Daniel D
Publication Date: 2008-06

Variant appearance in text: DMD: L2=
PubMed Link: 18544399
Variant Present in the following documents:
  • Main text
View BVdb publication page