Varaico: Literature-Extracted Genetic Variants

Gene:SP110
Variant:p.A26_I27delins
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SP110

NM_080424.4:p.A26_I27delins

Associated Papers

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

Delmonte OM et al.

Journal of Clinical Immunology, 2020

Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency.

Marquardsen FA et al.

Journal of Clinical Immunology, 2017

Hepatic veno-occlusive disease with immunodeficiency (VODI): first reported case in the U.S. and identification of a unique mutation in Sp110.

Wang T et al.

Clinical Immunology (orlando, Fla.), 2012

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.

Cliffe ST et al.

The Journal of Allergy and Clinical Immunology, 2012

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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."