Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E616_L617Splc
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UNC13D

NM_199242.3:p.E616_L617Splc

Associated Papers

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

Duong VT et al.

Frontiers in Immunology, 2024

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

Qian Y et al.

Pediatric Blood & Cancer, 2014

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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."