Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.S111_S120delFs
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UBE2A

NM_003336.4:p.S111_S120delFs

Associated Papers

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.

Ma D et al.

Molecular Genetics & Genomic Medicine, 2019

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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."