Varaico: Literature-Extracted Genetic Variants

Gene:RFX5
Variant:p.R239*
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RFX5

NM_001025603.2:p.R239*

Associated Papers

Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.

Lev A et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2022

Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.

El Hawary RE et al.

Journal of Clinical 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

The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Zlotogora J

Israel Journal of Health Policy Research, 2019

31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins

MHC-II Deficiency Among Egyptians: Novel Mutations and Unique Phenotypes.

El Hawary RE et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2019

Poliovirus excretion following vaccination with live poliovirus vaccine in patients with primary immunodeficiency disorders: clinicians' perspectives in the endgame plan for polio eradication.

Galal NM et al.

Bmc Research Notes, 2018

MHC II deficient infant identified by newborn screening program for SCID.

Marcus N et al.

Immunologic Research, 2018

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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."