Publications:

A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

European Journal Of Human Genetics : Ejhg

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; Catalano, Fabio F; Yamanaka, Manjiro M; Takahashi, Satoru S; Okumiya, Toshika T; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 2481+2T>C

PubMed Link: 33168984

Variant Present in the following documents:

• Main text
• 41431_2020_Article_751.pdf

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Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS

Publication Date: 2012-02-15

Variant appearance in text: GAA: 2481+2T>C

PubMed Link: 22252923

Variant Present in the following documents:

• Main text

View BVdb publication page