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: 1194+2T>A

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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The missing puzzle piece: splicing mutations.

International Journal Of Clinical And Experimental Pathology

Lewandowska, Marzena A MA

Publication Date: 2013

Variant appearance in text: GAA: 1194+2T>A

PubMed Link: 24294354

Variant Present in the following documents:

• Main text

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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: 1194+2T>A

PubMed Link: 21179066

Variant Present in the following documents:

• Main text

View BVdb publication page