Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.I87fs
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UBE2A

NM_003336.4:p.I87fs

Associated Papers

A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.

Jia W et al.

The Journal of Gene Medicine, 2020

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.

Czeschik JC et al.

Orphanet Journal of Rare Diseases, 2013

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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."