Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.R235P
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STXBP2

NM_006949.4:p.R235P

Associated Papers

Germline Compound Heterozygous Variants Identified in the STXBP2 Gene Leading to a Familial Hemophagocytic Lymphohistiocytosis Type 5: A Case Report.

Dantas VM et al.

Frontiers in Pediatrics, 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."