GAA c.2168del ;(p.V723Gfs*41)

Variant ID: 17-78087144-GT-G

NM_000152.3(GAA):c.2168del;(p.V723Gfs*41)

This variant was identified in 3 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: 2168delT
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



DMBA induced mouse mammary tumors display high incidence of activating Pik3caH1047 and loss of function Pten mutations.

Oncotarget
Abba, Martín C MC; Zhong, Yi Y; Lee, Jaeho J; Kil, Hyunsuk H; Lu, Yue Y; Takata, Yoko Y; Simper, Melissa S MS; Gaddis, Sally S; Shen, Jianjun J; Aldaz, C Marcelo CM
Publication Date: 2016-09-27

Variant appearance in text: GAA: 2168delT
PubMed Link: 27588403
Variant Present in the following documents:
  • oncotarget-07-64289-s003.xls, sheet 1
View BVdb publication page



Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.

Molecular Genetics And Metabolism
Elliott, Susan S; Buroker, Norman N; Cournoyer, Jason J JJ; Potier, Anna M AM; Trometer, Joseph D JD; Elbin, Carole C; Schermer, Mack J MJ; Kantola, Jaana J; Boyce, Aaron A; Turecek, Frantisek F; Gelb, Michael H MH; Scott, C Ronald CR
Publication Date: 2016-08

Variant appearance in text: GAA: 2168del
PubMed Link: 27238910
Variant Present in the following documents:
  • Main text
  • nihms849461.pdf
View BVdb publication page