Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.D3E
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STX11

NM_003764.4:p.D3E

Associated Papers

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Steen EA et al.

Frontiers in Immunology, 2021

STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.

Benavides N et al.

Frontiers in Immunology, 2020

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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."