GAA c.100del ;(p.D34Ifs*9)

Variant ID: 17-78078485-TG-T

NM_000152.3(GAA):c.100del;(p.D34Ifs*9)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Frataxin levels in peripheral tissue in Friedreich ataxia.

Annals Of Clinical And Translational Neurology
Lazaropoulos, Michael M; Dong, Yina Y; Clark, Elisia E; Greeley, Nathaniel R NR; Seyer, Lauren A LA; Brigatti, Karlla W KW; Christie, Carlton C; Perlman, Susan L SL; Wilmot, George R GR; Gomez, Christoper M CM; Mathews, Katherine D KD; Yoon, Grace G; Zesiewicz, Theresa T; Hoyle, Chad C; Subramony, Sub H SH; Brocht, Alicia F AF; Farmer, Jennifer M JM; Wilson, Robert B RB; Deutsch, Eric C EC; Lynch, David R DR
Publication Date: 2015-08

Variant appearance in text: GAA: 100delG
PubMed Link: 26339677
Variant Present in the following documents:
  • Main text
  • acn30002-0831.pdf
View BVdb publication page