GAA c.2078dup ;(p.A694Gfs*43)

Variant ID: 17-78087053-C-CA

NM_000152.3(GAA):c.2078dup;(p.A694Gfs*43)

This variant was identified in 6 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: 2078dup; Ala694fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 2078dupA
PubMed Link: 34417462
Variant Present in the following documents:
  • 41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine
Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS
Publication Date: 2019-07

Variant appearance in text: GAA: 2078dup
PubMed Link: 31392197
Variant Present in the following documents:
  • Main text
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 2078dup
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.pdf
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Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.

Jimd Reports
Swift, Gyani G; Cleary, Maureen M; Grunewald, Stephanie S; Lozano, Sonia S; Ryan, Martina M; Davison, James J
Publication Date: 2017

Variant appearance in text: GAA: 2078dup
PubMed Link: 27344650
Variant Present in the following documents:
  • Main text
View BVdb publication page



Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

Jimd Reports
Hahn, Andreas A; Praetorius, Susanne S; Karabul, Nesrin N; Dießel, Johanna J; Schmidt, Dorle D; Motz, Reinald R; Haase, Claudia C; Baethmann, Martina M; Hennermann, Julia B JB; Smitka, Martin M; Santer, René R; Muschol, Nicole N; Meyer, Ann A; Marquardt, Thorsten T; Huemer, Martina M; Thiels, Charlotte C; Rohrbach, Marianne M; Seyfullah, Gökce G; Mengel, Eugen E
Publication Date: 2015

Variant appearance in text: GAA: 2078insA
PubMed Link: 25626711
Variant Present in the following documents:
  • Main text
View BVdb publication page