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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
| Title: | 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 | Authors: | Perenthaler, Elena; ...; Capo, Ivan Dj   ; ...; (broj, koautora 46) |
Issue Date: | 2020 | Publication: | EUROPEAN JOURNAL OF HUMAN GENETICS | ISSN: | 1018-4813 European Journal of Human Genetics Search Idenfier |
Publisher: | Springer Nature | Type: | Conference Paper | Collation: | vol. 28 br. Suppl 1 str. 100-101 | WoS-ID: | 000598482600186 | URI: | https://enauka.gov.rs/handle/123456789/827041 | Metadata source: | (Preuzeto iz Nasi u WoS) | M-category: | Mp. category will be shown later |
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