Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R928P
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UNC13D

NM_199242.3:p.R928P

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

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

Neonatal primary hemophagocytic lymphohistiocytosis in Turkish children.

Gurgey A et al.

Journal of Pediatric Hematology/oncology, 2008

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.

Rudd E et al.

Journal of Medical Genetics, 2008

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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."