GAA c.2040+1G>T

Variant ID: 17-78086827-G-T

NM_000152.3(GAA):c.2040+1G>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GAA: 2040+1G>T
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Induced pluripotent stem cell for modeling Pompe disease.

Frontiers In Cardiovascular Medicine
Huang, Wenjun W; Zhang, Yanmin Y; Zhou, Rui R
Publication Date: 2022

Variant appearance in text: GAA: 2040+1G>T
PubMed Link: 36620633
Variant Present in the following documents:
  • Main text
  • fcvm-09-1061384.pdf
View BVdb publication page



The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan.

International Journal Of Neonatal Screening
Chiang, Shu-Chuan SC; Chien, Yin-Hsiu YH; Chang, Kai-Ling KL; Lee, Ni-Chung NC; Hwu, Wuh-Liang WL
Publication Date: 2020-06

Variant appearance in text: GAA: 2040+1G>T
PubMed Link: 33073026
Variant Present in the following documents:
  • Main text
  • IJNS-06-00030.pdf
View BVdb publication page



Modeling inherited cardiac disorders.

Circulation Journal : Official Journal Of The Japanese Circulation Society
Sallam, Karim K; Kodo, Kazuki K; Wu, Joseph C JC
Publication Date: 2014

Variant appearance in text: GAA: 2040+1G>T
PubMed Link: 24632794
Variant Present in the following documents:
  • Main text
View BVdb publication page