Varaico: Literature-Extracted Genetic Variants

Gene:PACS1
Variant:p.R733W
Back to variants list

PACS1

NM_018026.4:p.R733W

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."