Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.D789_A790Splc
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UNC13D

NM_199242.3:p.D789_A790Splc

Associated Papers

Successful Second CBT for Graft Failure After First CBT for Adult-Onset Familial Hemophagocytic Lymphohistiocytosis Type 3: A Case Report.

Akiyama D et al.

Transplantation Proceedings, 2024

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."