Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R254delFs
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UNC13D

NM_199242.3:p.R254delFs

Associated Papers

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.

Shabrish S et al.

Frontiers in Immunology, 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

Familial Hemophagocytic Lymphohistiocytosis due to Mutation of UNC13D Gene.

Giri PP et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2016

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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."