Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.G416A
Back to variants list

STXBP2

NM_006949.4:p.G416A

Associated Papers

Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.

Lucchini G et al.

Blood, 2018

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

Cohen JI et al.

Journal of Clinical Immunology, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."