Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.Y82C
Back to variants list

UBE2A

NM_003336.4:p.Y82C

Associated Papers

A novel UBE2A splice site variant causing intellectual disability type Nascimento.

Yan S et al.

Clinical Case Reports, 2022

A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.

Arslan Satılmış SB et al.

The Journal of Gene Medicine, 2021

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

Jia W et al.

The Journal of Gene Medicine, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."