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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UBE2A

Variant:p.A27delFs

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UBE2A

NM_003336.4:p.A27delFs

hg38:chrX:119574931 CG>C

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

33368912 (PubMed )

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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."