GAA c.378G>A ;(p.W126*)

Variant ID: 17-78078763-G-A

NM_000152.3(GAA):c.378G>A;(p.W126*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GAA: 378G>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Combining genetic crosses and pool targeted DNA-seq for untangling genomic variations associated with resistance to multiple insecticides in the mosquito Aedes aegypti.

Evolutionary Applications
Cattel, Julien J; Faucon, Frédéric F; Le Péron, Bastien B; Sherpa, Stéphanie S; Monchal, Marie M; Grillet, Lucie L; Gaude, Thierry T; Laporte, Frederic F; Dusfour, Isabelle I; Reynaud, Stéphane S; David, Jean-Philippe JP
Publication Date: 2020-02

Variant appearance in text: GAA: 378G>A
PubMed Link: 31993078
Variant Present in the following documents:
  • EVA-13-303-s006.xlsx, sheet 1
View BVdb publication page



A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

International Journal Of Clinical And Experimental Pathology
Xu, Lingling L; Zhang, Lidan L; Zhong, Liangying L; Huang, Xueqiong X; Li, Suping S; Cheng, Yucai Y; Liang, Yujian Y; Pei, Yuxin Y; Huang, Huimin H; Tang, Wen W; Zhang, Cheng C
Publication Date: 2017

Variant appearance in text: GAA: 378G>A
PubMed Link: 31966564
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Orphanet Journal Of Rare Diseases
Bevilacqua, Jorge A JA; Guecaimburu Ehuletche, Maria Del Rosario MDR; Perna, Abayuba A; Dubrovsky, Alberto A; Franca, Marcondes C MC; Vargas, Steven S; Hegde, Madhuri M; Claeys, Kristl G KG; Straub, Volker V; Daba, Nadia N; Faria, Roberta R; Periquet, Magali M; Sparks, Susan S; Thibault, Nathan N; Araujo, Roberto R
Publication Date: 2020-01-13

Variant appearance in text: GAA: Trp126*
PubMed Link: 31931849
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GAA: 378G>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page