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: 2235dup

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: 2235dup

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Chinese Medical Journal

Liu, Hua-Xu HX; Pu, Chuan-Qiang CQ; Shi, Qiang Q; Zhang, Yu-Tong YT; Ban, Rui R

Publication Date: 2018-02-20

Variant appearance in text: GAA: 2235dupG

PubMed Link: 29451150

Variant Present in the following documents:

• CMJ-131-448.pdf

View BVdb publication page