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, Maysoon Alsagob et al.|Acta Neuropathologica|2019Cited by 71
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