Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.R48H
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HCLS1

NM_005335.6:p.R48H

Associated Papers

Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).

Klein C

Journal of 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."