Varaico: Literature-Extracted Genetic Variants

Gene:IL11RA
Variant:p.T306_S308ins1
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IL11RA

NM_001142784.3:p.T306_S308ins1

Associated Papers

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

Liu Z et al.

Molecular Genetics & Genomic Medicine, 2025

40353334 (PubMed )
Supplement: MGG3-13-e70106-s002.xlsx › Sheet1

Molecular characterization of the craniosynostosis-associated interleukin-11 receptor variants p.T306_S308dup and p.E364_V368del.

Kespohl B et al.

The Febs Journal, 2024

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

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.

Nieminen P et al.

American Journal of Human Genetics, 2011

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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."