Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.G263E
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UBA5

NM_024818.6:p.G263E

Associated Papers

A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.

Briere LC et al.

Cold Spring Harbor Molecular Case Studies, 2021

33811063 (PubMed )
Supplement: supp_mcs.a005827_Supplemental_Table_S2.xlsx › Sheet1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."