Varaico: Literature-Extracted Genetic Variants

Gene:HYOU1
Variant:p.A419P
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HYOU1

NM_006389.5:p.A419P

Associated Papers

Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1.

Jafari Khamirani H et al.

Immunological Investigations, 2022

The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.

Arab F et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2022

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

Haapaniemi EM et al.

The Journal of Allergy and Clinical Immunology, 2017

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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."