Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.N515Splc
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UNC13D

NM_199242.3:p.N515Splc

Associated Papers

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.

Santoro A et al.

Haematologica, 2008

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."