Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.Y82fs
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UBE2A

NM_003336.4:p.Y82fs

Associated Papers

UBE2A-related X-linked intellectual disability.

Stevenson RE et al.

Clinical Dysmorphology, 2019

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.

Giugliano T et al.

American Journal of Medical Genetics. Part A, 2018

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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."