Varaico: Literature-Extracted Genetic Variants

Gene:RFX5
Variant:p.R149Q
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RFX5

NM_001025603.2:p.R149Q

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.

Al-Tamemi S et al.

Journal of Clinical Immunology, 2023

Immune Dysregulation in Monogenic Inborn Errors of Immunity in Oman: Over A Decade of Experience From a Single Tertiary Center.

Al Farsi T et al.

Frontiers in Immunology, 2022

A Novel RFXANK Mutation in a Chinese Child With MHC II Deficiency: Case Report and Literature Review.

Cai YQ et al.

Open Forum Infectious Diseases, 2020

A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.

Al Sukaiti N et al.

Frontiers in Immunology, 2020

Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.

Vignesh P et al.

Frontiers in Immunology, 2020

Splicing defect in RFXANK results in a moderate combined immunodeficiency and long-duration clinical course.

Prod'homme T et al.

Immunogenetics, 2003

Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.

Nekrep N et al.

Nature Immunology, 2002

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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."