Varaico: Literature-Extracted Genetic Variants

Gene:HYOU1
Variant:p.R486C
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HYOU1

NM_006389.5:p.R486C

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

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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."