Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.E565fs
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UNC13D

NM_199242.3:p.E565fs

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

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