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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 diseasesElena Perenthaler, Salem Alwadaee, Anita Nikoncuk et al.|Acta Neuropathologica|2019Cited by 71
Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem CellsTahsin Stefan Barakat, Joost Gribnau, Mehrnaz Ghazvini et al.|Stem Cell Reports|2015Cited by 53
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 diseasesElena Perenthaler, Tahsin Stefan Barakat, Anita Nikoncuk et al.|bioRxiv (Cold Spring Harbor Laboratory)|2019Cited by 7