Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q609*
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UNC13D

NM_199242.3:p.Q609*

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

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Steen EA et al.

Frontiers in Immunology, 2021

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

Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.

Zhang K et al.

International Journal of Immunogenetics, 2007

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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."