TTN c.74839C>A ;(p.R24947S)

Variant ID: 2-179436020-G-T

NM_001267550.1(TTN):c.74839C>A;(p.R24947S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: TTN: Arg24947Ser
PubMed Link: 30827497
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • main.pdf
View BVdb publication page