Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.R101Q
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IL10RA

NM_001558.4:p.R101Q

Associated Papers

Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.

Ghorbanpour A et al.

Molecular Medicine (cambridge, Mass.), 2026

Characteristics of the gut microbiota and the effect of Bifidobacterium in very early-onset inflammatory bowel disease patients with IL10RA mutations.

Xu X et al.

Frontiers in Microbiology, 2024

An interleukin 10 Receptor alpha (IL-10RA) variant with a compound heterozygote mutation shows normal IL-10 signaling activity.

Lv J et al.

Genes & Diseases, 2023

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

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

A novel 333 bp deletion of IL10RA in Chinese patients with neonatal-onset inflammatory bowel disease.

Peng X et al.

Journal of Clinical Immunology, 2021

Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.

Su W et al.

World Journal of Gastroenterology, 2021

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

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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."