Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.V478fs
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STXBP2

NM_006949.4:p.V478fs

Associated Papers

A Case of Fetal Familial Hemophagocytic Lymphohistiocytosis Type 5 caused by STXBP2 Gene Mutation.

Fu C et al.

Clinical Laboratory, 2023

Screening for primary immunodeficiency diseases by next-generation sequencing in early life.

Sun J et al.

Clinical & Translational Immunology, 2020

32431812 (PubMed )
Supplement: CTI2-9-e1138-s001.xlsx › Sheet2
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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."