Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.Q110E
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UBE2A

NM_003336.4:p.Q110E

Associated Papers

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

UBE2A-related X-linked intellectual disability.

Stevenson RE et al.

Clinical Dysmorphology, 2019

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes.

Niranjan TS et al.

Plos One, 2015

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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."