GAA c.982_988del ;(p.L328Gfs*62)

Variant ID: 17-78082115-CCTTAGCT-C

NM_000152.3(GAA):c.982_988del;(p.L328Gfs*62)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.

International Journal Of Molecular Sciences
Aguilar-González, Araceli A; González-Correa, Juan Elías JE; Barriocanal-Casado, Eliana E; Ramos-Hernández, Iris I; Lerma-Juárez, Miguel A MA; Greco, Sara S; Rodríguez-Sevilla, Juan José JJ; Molina-Estévez, Francisco Javier FJ; Montalvo-Romeral, Valle V; Ronzitti, Giuseppe G; Sánchez-Martín, Rosario María RM; Martín, Francisco F; Muñoz, Pilar P
Publication Date: 2022-06-04

Variant appearance in text: GAA: 982_988del
PubMed Link: 35682977
Variant Present in the following documents:
  • ijms-23-06298.pdf
View BVdb publication page



Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 982_988del
PubMed Link: 33560568
Variant Present in the following documents:
  • Main text
View BVdb publication page



Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Publication Date: 2021-02

Variant appearance in text: GAA: 982_988del
PubMed Link: 33560568
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: 982_988del
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
View BVdb publication page