Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.P399delFs
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STXBP2

NM_006949.4:p.P399delFs

Associated Papers

A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

Shibata H et al.

Journal of Clinical Immunology, 2024

Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via immunosuppressive drug therapy.

Fujikawa H et al.

Clinical Immunology (orlando, Fla.), 2023

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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."