Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.E59K
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STXBP2

NM_006949.4:p.E59K

Associated Papers

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.

Shibata H et al.

Blood, 2018

Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.

Aricò M et al.

Plos One, 2013

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

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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."