Varaico: Literature-Extracted Genetic Variants

Gene:IL11RA
Variant:p.C130S
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IL11RA

NM_001142784.3:p.C130S

Associated Papers

The structure of the IL-11 signalling complex provides insight into receptor variants associated with craniosynostosis.

Sentosa DD et al.

The Febs Journal, 2025

Craniosynostosis-associated variants in the IL-11R complex: new insights and questions.

Sims NA et al.

The Febs Journal, 2024

Mutations in Craniosynostosis Patients Cause Defective Interleukin-11 Receptor Maturation and Drive Craniosynostosis-like Disease in Mice.

Agthe M et al.

Cell Reports, 2018

Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

Clarke CM et al.

American Journal of Medical Genetics. Part A, 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."