Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.S816Splc
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UNC13D

NM_199242.3:p.S816Splc

Associated Papers

Etiologies and long-term outcome of pediatric hemophagocytic lymphohistiocytosis and macrophage activation syndrome in Taiwan: a single-center retrospective study.

Wang CY et al.

Frontiers in Immunology, 2025

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.

Sadeghi P et al.

Bmc Pediatrics, 2022

UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.

Liao CH et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2020

Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study.

Zhang L et al.

Annals of Hematology, 2019

[Familial Haemophagocytic Lymphohistiocytosis Occurs in A Fetus at His Third Trimester-A Case Report].

Huang JB et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2017

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.

Alsina L et al.

Clinical Immunology (orlando, Fla.), 2014

[Familial hemophagocytic lymphohistiocytosis with the MUNC13-4 mutation after unrelated hematopoietic stem cell transplantation: a case report].

Tang XF et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013

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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."