Varaico: Literature-Extracted Genetic Variants

Gene:IL11RA
Variant:p.R261C
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IL11RA

NM_001142784.3:p.R261C

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

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.

Tønne E et al.

European Journal of Human Genetics : Ejhg, 2021

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Korakavi N et al.

American Journal of Medical Genetics. Part A, 2019

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Brischoux-Boucher E et al.

Clinical Genetics, 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."