Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy (Q29147524)

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Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
scientific journal article

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    Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy (English)
    Estelle Colin
    Jens Daniel
    Alban Ziegler
    Jamal Wakim
    Aurora Scrivo
    Salim Khiati
    Kyrieckos A. Aleck
    Lorenzo D. Botto
    Claudia Lena Herper
    Charlotte Sophia Kaiser
    Rima Nabbout
    Sylvie N'Guyen
    José Antonio Mora-Lorca
    Birgit Assmann
    Stine Christ
    FREX Consortium
    Georg F. Hoffmann
    Eva Liebau
    1 September 2016
    695–703

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