Publications:

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: 1650del

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: 1650del

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.

Journal Of Research In Medical Sciences : The Official Journal Of Isfahan University Of Medical Sciences

Ebrahimi, Milad M; Behnam, Mahdieh M; Behranvand-Jazi, Nafiseh N; Yari, Ladan L; Sheikh-Kanlomilan, Sajad S; Salehi, Mansoor M; Tahmasebi, Pardis P; Amini, Mohaddeseh M; Behjati, Mohaddeseh M; Hosseini, Nafisehsadat N

Publication Date: 2017

Variant appearance in text: GAA: 1650delG

PubMed Link: 28900456

Variant Present in the following documents:

• Main text
• JRMS-22-100.pdf

View BVdb publication page