Varaico: Literature-Extracted Genetic Variants

Gene:AK2
Variant:p.R175Q
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AK2

NM_001625.4:p.R175Q

Associated Papers

Recent advances in understanding the pathogenesis and management of reticular dysgenesis.

Hoenig M et al.

British Journal of Haematology, 2018

Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population.

Al-Herz W et al.

Frontiers in Immunology, 2018

Reticular dysgenesis: international survey on clinical presentation, transplantation, and outcome.

Hoenig M et al.

Blood, 2017

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.

Rissone A et al.

The Journal of Experimental Medicine, 2015

First reported case of Omenn syndrome in a patient with reticular dysgenesis.

Henderson LA et al.

The Journal of Allergy and Clinical Immunology, 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."