Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q766*
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UNC13D

NM_199242.3:p.Q766*

Associated Papers

Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.

Xinh PT et al.

International Journal of Laboratory Hematology, 2021

Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.

Gadoury-Levesque V et al.

Blood Advances, 2020

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

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

Qian Y et al.

Pediatric Blood & Cancer, 2014

Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis.

Chen Y et al.

Yonsei Medical Journal, 2013

Treatment of familial hemophagocytic lymphohistiocytosis with third-party mesenchymal stromal cells.

Mougiakakos D et al.

Stem Cells and Development, 2012

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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."