Varaico: Literature-Extracted Genetic Variants

Gene:NRBP2
Variant:p.P169S
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NRBP2

NM_178564.4:p.P169S

Associated Papers

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

El Chehadeh S et al.

European Journal of Human Genetics : Ejhg, 2016

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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."