Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2A
Variant:p.C95delFs
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SPPL2A

NM_032802.4:p.C95delFs

Associated Papers

First Brazilian Case Report of Unrelated Patients with Identical ISG15 Mutation.

Napoleao SMDS et al.

Journal of Clinical Immunology, 2024

An updated review on Mendelian susceptibility to mycobacterial diseases- a silver jubilee celebration of its first genetic diagnosis.

Das J et al.

Expert Review of Clinical Immunology, 2021

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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."