Varaico: Literature-Extracted Genetic Variants

Gene:IL11RA
Variant:p.Q159*
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IL11RA

NM_001142784.3:p.Q159*

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

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

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

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

Agthe M et al.

Cell Reports, 2018

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

Brischoux-Boucher E et al.

Clinical Genetics, 2018

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.

Fu F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 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."