Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E565delFs
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UNC13D

NM_199242.3:p.E565delFs

Associated Papers

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

Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.

Lee JS et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2014

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.

Seo JY et al.

Annals of Hematology, 2013

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.

Yoon HS et al.

Haematologica, 2010

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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."