Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.R117C
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IL10RA

NM_001558.4:p.R117C

Associated Papers

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

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

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.

Ye Z et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.

Dos Santos CMA et al.

Frontiers in Genetics, 2021

CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Valori M et al.

Plos One, 2021

34874980 (PubMed )
Supplement: pone.0261002.s008.xlsx › Sheet1

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

Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).

Al-Abbasi FA et al.

Frontiers in Genetics, 2018

[Interleukin-10 receptor mutations in children with neonatal onset inflammatory bowel disease: genetic diagnosis and pathogenesis].

Lu D et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans.

Shouval DS et al.

Advances in Immunology, 2014

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing.

Dinwiddie DL et al.

Genomics, 0

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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."