Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R587H
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UNC13D

NM_199242.3:p.R587H

Associated Papers

Did variants in inborn errors of immunity genes contribute to the extinction of Neanderthals?

Zhou Z et al.

Asian Pacific Journal of Allergy and Immunology, 2022

Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.

Park JE et al.

Frontiers in Pediatrics, 2022

36440336 (PubMed )
Supplement: Datasheet1.pdf

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Zur Stadt U et al.

Human Mutation, 2006

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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."