Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.T166M
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STXBP2

NM_006949.4:p.T166M

Associated Papers

Exploring the Complexities of Liver Transplantation for Secondary Hemophagocytic Lymphohistiocytosis-Associated Acute Liver Failure.

Zhang WT et al.

Pediatric Transplantation, 2025

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Zhou X et al.

Frontiers in Medicine, 2021

34778325 (PubMed )
Supplement: Data_Sheet_2.PDF

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

Genetic characterization of pediatric primary hemophagocytic lymphohistiocytosis in China: a single-center study.

Zhang L et al.

Annals of Hematology, 2019

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

Miao Y et al.

Frontiers in Immunology, 2019

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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."