Varaico: Literature-Extracted Genetic Variants

Gene:IL10RA
Variant:p.V123Splc
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IL10RA

NM_001558.4:p.V123Splc

Associated Papers

Matched Unrelated Donor Hematopoietic Stem Cell Transplant as Successful Curative Therapy for IL10RB Mutation-Associated Very Early Onset IBD.

Grotra R et al.

Pediatric Transplantation, 2024

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index

Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression.

Wachs AS et al.

Wiley Interdisciplinary Reviews. Rna, 2021

A Systematic Review on Predisposition to Lymphoid (B and T cell) Neoplasias in Patients With Primary Immunodeficiencies and Immune Dysregulatory Disorders (Inborn Errors of Immunity).

Riaz IB et al.

Frontiers in Immunology, 2019

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Karaca NE et al.

Case Reports in Immunology, 2016

Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.

Murugan D et al.

Journal of Clinical Immunology, 2014

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.

Neven B et al.

Blood, 2013

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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."