Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E765_Q766delFs
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UNC13D

NM_199242.3:p.E765_Q766delFs

Associated Papers

Familial hemophagocytic lymphohistiocytosis in a neonate: Case report and literature review.

Yang Y et al.

Medicine, 2021

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2020

32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1

Novel mutations in the UNC13D gene carried by a Chinese neonate with hemophagocytic lymphohistiocytosis.

Chen Y et al.

Yonsei Medical Journal, 2013

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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."