数据库名称：Pompe disease GAA variant database
数据库简述：
所属国家/地区：Netherlands
数据库主要信息：The Pompe disease GAA variant database is a curated, open‐source, disease‐specific database, and lists disease‐associated GAA variants, in silico predictions, and clinical phenotypes reported until 2016.
建立年份：2021
联系信息：Contact information
University/Institution:
Erasmus University Medical Center
Address:
Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands.
City:
Province/State:
Country/Region:
Netherlands
Contact name (PI/Team):
W. W. M. Pim Pijnappel
Contact email (PI/Helpdesk):
w.pijnappel@erasmusmc.nl
