GAA c.346G>A ;(p.G116R)

Variant ID: 17-78078731-G-A

NM_000152.3(GAA):c.346G>A;(p.G116R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GAA: 346G>A; G116R
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
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: 346G>A
PubMed Link: 31993078
Variant Present in the following documents:
  • EVA-13-303-s006.xlsx, sheet 1
View BVdb publication page



The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ
Publication Date: 2019-03

Variant appearance in text: GAA: 346G>A; G116R
PubMed Link: 30093709
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: 346G>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page