Varaico: Literature-Extracted Genetic Variants

Gene:IL11RA
Variant:p.D297Y
Back to variants list

IL11RA

NM_001142784.3:p.D297Y

Associated Papers

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Schwerd T et al.

The Journal of Experimental Medicine, 2017

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."