Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E39insFs
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UNC13D

NM_199242.3:p.E39insFs

Associated Papers

Human herpesvirus 6B infection in an adult with hemophagocytic lymphohistiocytosis carrying an UNC13D mutation: a case report and literature review.

Xiao P et al.

Frontiers in Immunology, 2025

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2020

32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.

Chen X et al.

Clinical Genetics, 2018

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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."