Varaico: Literature-Extracted Genetic Variants

Gene:UGDH
Variant:p.I10_G11insFs
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UGDH

NM_003359.4:p.I10_G11insFs

Associated Papers

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.

Jiang L et al.

Molecular Genetics & Genomic Medicine, 2023

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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."