Varaico: Literature-Extracted Genetic Variants

Gene:STX11
Variant:p.F281C
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STX11

NM_003764.4:p.F281C

Associated Papers

Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis.

Park JE et al.

Frontiers in Pediatrics, 2022

36440336 (PubMed )
Supplement: Datasheet1.pdf

Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.

Steen EA 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

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.

Miao Y et al.

Frontiers in Immunology, 2019

Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.

Chen X et al.

Oncology Letters, 2017

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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."