Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.Y157C
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IL10RA

NM_001558.4:p.Y157C

Associated Papers

Pathogenic Interleukin-10 Receptor Alpha Variants in Humans - Balancing Natural Selection and Clinical Implications.

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

Phenotypic Characterization of Very Early-Onset Inflammatory Bowel Disease with Interleukin-10 Signaling Deficiency: Based on a Large Cohort Study.

Zheng C et al.

Inflammatory Bowel Diseases, 2019

Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.

Lv H et al.

Hereditas, 2019

Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.

Fang YH et al.

World Journal of Gastroenterology, 2018

Phenotype and Management of Infantile-onset Inflammatory Bowel Disease: Experience from a Tertiary Care Center in China.

Ye Z et al.

Inflammatory Bowel Diseases, 2017

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Huang Z et al.

Inflammatory Bowel Diseases, 2017

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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."