Varaico: Literature-Extracted Genetic Variants

Gene:UBE4A
Variant:p.C413delFs
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UBE4A

NM_004788.4:p.C413delFs

Associated Papers

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.

Melo US et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."