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Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Hum Mutat. 2012 Aug;33(8):1161-5. doi: 10.1002/humu.22108. Epub 2012 May 29.
Hum Mutat. 2012.
PMID: 22644586
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A; GAA Database Consortium.
Kroos M, et al.
Hum Mutat. 2008 Jun;29(6):E13-26. doi: 10.1002/humu.20745.
Hum Mutat. 2008.
PMID: 18425781
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