GAA c.1636+1G>C

Variant ID: 17-78084825-G-C

NM_000152.3(GAA):c.1636+1G>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 1636+1G>C
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

Scientific Reports
Masat, Elisa E; LaforĂȘt, Pascal P; De Antonio, Marie M; Corre, Guillaume G; Perniconi, Barbara B; Taouagh, Nadjib N; Mariampillai, Kuberaka K; Amelin, Damien D; Mauhin, Wladimir W; Hogrel, Jean-Yves JY; Caillaud, Catherine C; Ronzitti, Giuseppe G; Puzzo, Francesco F; Kuranda, Klaudia K; Colella, Pasqualina P; Mallone, Roberto R; Benveniste, Olivier O; Mingozzi, Federico F; ,
Publication Date: 2016-11-04

Variant appearance in text: GAA: 1636+1G>C
PubMed Link: 27812025
Variant Present in the following documents:
  • srep36182-s1.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: 1636+1G>C
PubMed Link: 21179066
Variant Present in the following documents:
  • Main text
View BVdb publication page