Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity
Abstract
Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function...
Paper Details
Title
Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity
Published Date
Jul 29, 2019
Journal
Volume
40
Issue
11
Pages
1954 - 1967
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