DMD c.2862G>A ;(p.W954*)

Variant ID: X-32490368-C-T

NM_004006.2(DMD):c.2862G>A;(p.W954*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study.

Molecules (Basel, Switzerland)
Nimer, Refat M RM; Sumaily, Khalid M KM; Almuslat, Arwa A; Abdel Jabar, Mai M; Sabi, Essa M EM; Al-Muhaizea, Mohammad A MA; Abdel Rahman, Anas M AM
Publication Date: 2022-06-07

Variant appearance in text: DMD: 2862G>A
PubMed Link: 35744792
Variant Present in the following documents:
  • molecules-27-03662.pdf
View BVdb publication page



Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

American Journal Of Human Genetics
Gonorazky, Hernan D HD; Naumenko, Sergey S; Ramani, Arun K AK; Nelakuditi, Viswateja V; Mashouri, Pouria P; Wang, Peiqui P; Kao, Dennis D; Ohri, Krish K; Viththiyapaskaran, Senthuri S; Tarnopolsky, Mark A MA; Mathews, Katherine D KD; Moore, Steven A SA; Osorio, Andres N AN; Villanova, David D; Kemaladewi, Dwi U DU; Cohn, Ronald D RD; Brudno, Michael M; Dowling, James J JJ
Publication Date: 2019-03-07

Variant appearance in text: DMD: 2862G>A
PubMed Link: 30827497
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • mmc2.xlsx, sheet 3
  • main.pdf
View BVdb publication page