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: 837G>C

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: 837G>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

Activated mTOR signaling pathway in myofibers with inherited metabolic defect might be an evidence for mTOR inhibition therapies.

Chinese Medical Journal

Lyu, Jing-Wei JW; Xu, Xue-Bi XB; Ji, Kun-Qian KQ; Zhang, Na N; Sun, Yuan Y; Zhao, Dan-Dan DD; Zhao, Yu-Ying YY; Yan, Chuan-Zhu CZ

Publication Date: 2019-04-05

Variant appearance in text: GAA: 837G>C

PubMed Link: 30897595

Variant Present in the following documents:

• cm9-132-805.pdf

View BVdb publication page