GAA c.1194+2T>C

Variant ID: 17-78082408-T-C

NM_000152.3(GAA):c.1194+2T>C

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: 1194+2T>C
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genome scale analysis of pathogenic variants targetable for single base editing.

Bmc Medical Genomics
Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY
Publication Date: 2020-09-18

Variant appearance in text: GAA: 1194+2T>C
PubMed Link: 32948190
Variant Present in the following documents:
  • 12920_2020_735_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports
Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS
Publication Date: 2019-09

Variant appearance in text: GAA: 1194+2T>C
PubMed Link: 31193175
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.

European Journal Of Human Genetics : Ejhg
Zampieri, Stefania S; Buratti, Emanuele E; Dominissini, Silvia S; Montalvo, Anna Lisa AL; Pittis, Maria Gabriela MG; Bembi, Bruno B; Dardis, Andrea A
Publication Date: 2011-04

Variant appearance in text: GAA: 1194+2T>C
PubMed Link: 21179066
Variant Present in the following documents:
  • Main text
View BVdb publication page