Publications:

Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Annals Of Translational Medicine

Zhao, Hui-Hui HH; Ma, Zhi Z; Ying, Zi-Xuan ZX; Niu, Feng-Nan FN; Luo, Mao-Tao MT; Wang, Zheng Z; Cheng, Xi X; Zhang, Qian-Qian QQ; Niu, Qi Q

Publication Date: 2021-12

Variant appearance in text: GAA: 1299G>C; Q433H

PubMed Link: 35071497

Variant Present in the following documents:

• Main text
• atm-09-24-1803-supplementary.pdf
• atm-09-24-1803.pdf

View BVdb publication page

Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GAA: 1299G>C

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page