Varaico: Literature-Extracted Genetic Variants

Gene:IL10RB
Variant:p.W204*
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IL10RB

NM_000628.5:p.W204*

Associated Papers

A novel biallelic 19-bp deletion in the IL10RB gene caused infant-onset inflammatory bowel disease in a consanguineous family: a molecular docking simulation study and literature review.

Motallebi F et al.

Molecular Biology Reports, 2024

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.

Korol CB et al.

Journal of Clinical Immunology, 2023

36308662 (PubMed )
Supplement: 10875_2022_1376_MOESM1_ESM.docx

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

Aschenbrenner D et al.

Journal of Clinical Immunology, 2023

36370291 (PubMed )
Supplement: 10875_2022_1366_MOESM10_ESM.xlsx › Sheet1

The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.

Sharifinejad N et al.

Clinical and Experimental Immunology, 2022

Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease.

Shouval DS et al.

Journal of Pediatric Gastroenterology and Nutrition, 2016

IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms.

Engelhardt KR et al.

Current Topics in Microbiology and Immunology, 2014

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.

Engelhardt KR et al.

The Journal of Allergy and Clinical Immunology, 2013

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.

Kotlarz D et al.

Gastroenterology, 2012

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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."