GAA c.2del ;(p.M1?)

Variant ID: 17-78078387-AT-A

NM_000152.3(GAA):c.2del;(p.M1?)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20

Variant appearance in text: GAA: 2delT
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: 2delT
PubMed Link: 26339677
Variant Present in the following documents:
  • Main text
  • acn30002-0831.pdf
View BVdb publication page