Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q884*
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UNC13D

NM_199242.3:p.Q884*

Associated Papers

Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.

Akyol S et al.

Journal of Pediatric Hematology/oncology, 2020

Successful correction of familial hemophagocytic lymphohistiocytosis using prenatal genetic testing and preemptive hematopoietic stem cell transplantation.

Michniacki TF et al.

Bone Marrow Transplantation, 2018

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.

Santoro A et al.

Haematologica, 2008

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.

Santoro A et al.

Journal of Medical Genetics, 2006

Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.

Marcenaro S et al.

Blood, 2006

Bone marrow transplantation for familial hemophagocytic lymphohistiocytosis.

Ahmed T et al.

Anticancer Research, 0

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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."