Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.Y130fs
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UBE2A

NM_003336.4:p.Y130fs

Associated Papers

UBE2A-related X-linked intellectual disability.

Stevenson RE et al.

Clinical Dysmorphology, 2019

Next-generation sequencing in X-linked intellectual disability.

Tzschach A et al.

European Journal of Human Genetics : Ejhg, 2015

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."