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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases (2019)

First Author: Perenthaler E

Attributed to: MRC Strategic Award to establish an International Centre for Genomic Medicine in Neuromuscular Diseases funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1101/799841

Publication URI: http://dx.doi.org/10.1101/799841

Type: Preprint