Varaico: Literature-Extracted Genetic Variants

Gene:STEEP1
Variant:p.R53_D54insFs
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STEEP1

NM_022101.4:p.R53_D54insFs

Associated Papers

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

Rocha ME et al.

European Journal of Human Genetics : Ejhg, 2020

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.

Verkerk AJMH et al.

European Journal of Human Genetics : Ejhg, 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."