Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

Title
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 29, Issue 6, Pages E13-E26
Publisher
Wiley
Online
2008-04-19
DOI
10.1002/humu.20745

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