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STXBP2 wt Allele

Known as: Hunc18b, unc-18B, MUNC18-2 
Human STXBP2 wild-type allele is located within 19p13.3-p13.2 and is approximately 11 kb in length. This allele, which encodes syntaxin-binding… 
National Institutes of Health

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4 relations
ExocytosisHomo sapiensLigand BindingMolecular Transport

Papers overview

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2017
2017
A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis
BackgroundHemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects… 
2017
2017
Retrospective analysis of 60 patients with Hemophagocytic Lymphohistiocytosis (HLH): focus on genetic variants associated with secondary/late onset disease
Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of uncontrolled cytotoxic T-lymphocyte and macrophage activation… 
2011
2011
Caractérisation moléculaire et fonctionnelle de la syntaxine 11 et de son partenaire MUNC18-2, impliqués dans la lymphohistiocytose familiale
La Lymphohistiocytose Familiale (LHF) est une pathologie immunitaire de transmission autosomique recessive. Elle est caracterisee… 
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