Varaico: Literature-Extracted Genetic Variants

Gene:PPME1
Variant:p.S72N
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PPME1

NM_016147.3:p.S72N

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

28747427 (PubMed )
Supplement: JEM_20161810_sm.pdf
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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."