Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.F585_H586insFs
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UNC13D

NM_199242.3:p.F585_H586insFs

Associated Papers

A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.

Brik Simon D et al.

Genes, 2025

41300767 (PubMed )
Supplement: genes-16-01315-s001.zip › genes-3861651-supplementary.pdf

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

Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.

Yamamoto K et al.

Journal of Medical Genetics, 2004

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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."