Varaico: Literature-Extracted Genetic Variants

Gene:SP110
Variant:p.I27T
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SP110

NM_080424.4:p.I27T

Associated Papers

Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD.

Delmonte OM et al.

Journal of Clinical Immunology, 2020

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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."