Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R727Q
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UNC13D

NM_199242.3:p.R727Q

Associated Papers

Functional role of UNC13D in immune diseases and its therapeutic applications.

Duong VT et al.

Frontiers in Immunology, 2024

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

Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.

Batlle-Masó L et al.

European Journal of Medical Genetics, 2020

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.

Shibata H et al.

Blood, 2018

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

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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."